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CACNA1C calcium voltage-gated channel subunit alpha1 C [ Homo sapiens (human) ]

Gene ID: 775, updated on 10-Dec-2024

Summary

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Official Symbol
CACNA1Cprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Cprovided by HGNC
Primary source
HGNC:HGNC:1390
See related
Ensembl:ENSG00000151067 MIM:114205; AllianceGenome:HGNC:1390
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; NEDHLSS; CACNL1A1; TS. LQT8; CACNA1C-IT2
Summary
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Expression
Broad expression in endometrium (RPKM 5.2), heart (RPKM 4.5) and 19 other tissues See more
Orthologs
mouse all
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Genomic context

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See CACNA1C in Genome Data Viewer
Location:
12p13.33
Exon count:
57
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (1970780..2697950)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (1965666..2703402)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2162153..2807116)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 4 Neighboring gene uncharacterized LOC124902858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2021735-2022235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2025891-2026467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2042322-2042920 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:2063223-2064422 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene Sharpr-MPRA regulatory region 10568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:2112705-2113344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5813 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:2120775-2121283 Neighboring gene CACNA1C intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4127 Neighboring gene decapping mRNA 1B Neighboring gene NANOG hESC enhancer GRCh37_chr12:2158750-2159251 Neighboring gene CACNA1C intronic transcript 2 Neighboring gene uncharacterized LOC107984131 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2244697-2245492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2246289-2247084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2248447-2248948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2248949-2249448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2292877-2293376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2296398-2296898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2298181-2298776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2300389-2300956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2300957-2301526 Neighboring gene Sharpr-MPRA regulatory region 515 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2327895-2328089 Neighboring gene CACNA1C antisense RNA 4 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2364607-2365108 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:2365109-2365608 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2379570-2379768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2382663-2383258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2383259-2383852 Neighboring gene CACNA1C intronic transcript 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2446628-2447128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2456839-2457346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2460511-2461011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462368-2462964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2462965-2463559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2485885-2486488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2486489-2487090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2518831-2519593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2524749-2525248 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2534057-2534597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2601921-2602422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2602423-2602923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2616670-2617170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2617171-2617671 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2642317-2642824 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2664536-2665036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2720576-2721076 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2721501-2721653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736099-2736770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2736771-2737440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2747711-2748212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2760867-2761740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2786203-2786704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2788182-2789145 Neighboring gene CACNA1C antisense RNA 2 Neighboring gene CACNA1C antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4129 Neighboring gene ribosomal protein S6 pseudogene 18 Neighboring gene calcium voltage-gated channel subunit alpha1 C pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:2861912-2862124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:2862369-2862869 Neighboring gene long intergenic non-protein coding RNA 2371 Neighboring gene ITFG2 antisense RNA 1 Neighboring gene IQ motif and Sec7 domain 3 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls. Tesli M, et al. PLoS One, 2013. PMID 23437284, Free PMC Article
  2. The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: a diffusion tensor imaging study. Dietsche B, et al. Neuroimage, 2014 Apr 1. PMID 24269271
  3. CACNA1C, schizophrenia and major depressive disorder in the Han Chinese population. He K, et al. Br J Psychiatry, 2014 Jan. PMID 24262814
  4. Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation. Fan C, et al. Brain, 2013 Dec. PMID 24240197, Free PMC Article
  5. A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. Gershon ES, et al. Mol Psychiatry, 2014 Aug. PMID 23979604, Free PMC Article

See all (395) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
    Title: NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.
  2. [CACNA1C rs58619945 genotype influences the cortical thickness of attention network among patients with Bipolar disorder].
    Title: [CACNA1C rs58619945 genotype influences the cortical thickness of attention network among patients with Bipolar Ⅰ disorder].
  3. Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
    Title: Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
  4. Structural basis for human Cav1.2 inhibition by multiple drugs and the neurotoxin calciseptine.
    Title: Structural basis for human Ca(v)1.2 inhibition by multiple drugs and the neurotoxin calciseptine.
  5. Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
    Title: Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
  6. The rs216009 single-nucleotide polymorphism of the CACNA1C gene is associated with phantom tooth pain.
    Title: The rs216009 single-nucleotide polymorphism of the CACNA1C gene is associated with phantom tooth pain.
  7. A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.
    Title: A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.
  8. CACNA1C-Related Channelopathies.
    Title: CACNA1C-Related Channelopathies.
  9. EMC chaperone-CaV structure reveals an ion channel assembly intermediate.
    Title: EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.
  10. Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
    Title: Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
Submit: New GeneRIF Correction See all GeneRIFs (309)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2016-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2016-03-24)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
EBI GWAS Catalog
A genome-wide association study of sleep habits and insomnia.
EBI GWAS Catalog
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
EBI GWAS Catalog
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
EBI GWAS Catalog
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC120730, DKFZp761C1547

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-actinin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calmodulin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to high voltage-gated calcium channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated calcium channel activity involved in AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in calcium ion transmembrane transport via high voltage-gated calcium channel IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion transmembrane transport via high voltage-gated calcium channel IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in calcium ion transport into cytosol TAS
Traceable Author Statement
more info
 PubMed 
involved_in camera-type eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in immune system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of muscle contraction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
voltage-dependent L-type calcium channel subunit alpha-1C
Names
CACNA1C intronic transcript 2
CACNA1C intronic transcript 2 (non-protein coding)
DHPR, alpha-1 subunit
calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
calcium channel, voltage-dependent, L type, alpha 1C subunit
voltage-dependent L-type Ca2+ channel alpha 1 subunit

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008801.2 RefSeqGene

    Range
    87465..732164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_334

mRNA and Protein(s)

  1. NM_000719.7 → NP_000710.5  voltage-dependent L-type calcium channel subunit alpha-1C isoform 18

    See identical proteins and their annotated locations for NP_000710.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), also referred to as HLCC70, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 18), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34810
    Consensus CDS
    CCDS44794.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382563.1, ENST00000399655.6
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  2. NM_001129827.2 → NP_001123299.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also referred to as HLCC90, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34821
    Consensus CDS
    CCDS44788.1
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    Related
    ENSP00000266376.6, ENST00000347598.9
    Conserved Domains (5) summary
    pfam00520
    Location:1256 → 1535
    Ion_trans; Ion transport protein
    pfam08763
    Location:1608 → 1679
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1702 → 2134
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1543 → 1606
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  3. NM_001129829.2 → NP_001123301.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also referred to as HLCC126, lacks three alternate in-frame exons and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830713
    Consensus CDS
    CCDS44792.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000341092.3, ENST00000344100.7
    Conserved Domains (5) summary
    pfam00520
    Location:141 → 416
    Ion_trans; Ion transport protein
    pfam08763
    Location:1582 → 1672
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1695 → 2127
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1517 → 1580
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  4. NM_001129830.3 → NP_001123302.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also referred to as HLCC85, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, AK309111, KF455578, Z34822
    Consensus CDS
    CCDS53736.1
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    UniProtKB/TrEMBL
    A0A0A0MR67
    Related
    ENSP00000329877.7, ENST00000327702.12
    Conserved Domains (4) summary
    pfam00520
    Location:123 → 416
    Ion_trans; Ion transport protein
    pfam08763
    Location:1559 → 1633
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1653 → 2123
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1496 → 1549
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  5. NM_001129831.2 → NP_001123303.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also referred to as HLCC88, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 5), compared to isoform 1. This isoform (5) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34819
    Consensus CDS
    CCDS44790.1
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    Related
    ENSP00000382547.1, ENST00000399638.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1515
    Ion_trans; Ion transport protein
    pfam08763
    Location:1588 → 1659
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1682 → 2114
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1523 → 1586
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  6. NM_001129832.2 → NP_001123304.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), also referred to as HLCC87, lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 6), compared to isoform 1. This isoform (6) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34818
    Consensus CDS
    CCDS44789.1
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    Related
    ENSP00000382515.1, ENST00000399606.5
    Conserved Domains (5) summary
    pfam00520
    Location:1256 → 1507
    Ion_trans; Ion transport protein
    pfam08763
    Location:1580 → 1651
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1674 → 2106
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1515 → 1578
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  7. NM_001129833.2 → NP_001123305.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), also referred to has HLCC127, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 7), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830712
    Consensus CDS
    CCDS53735.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000385724.3, ENST00000402845.7
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1673 → 2105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  8. NM_001129834.2 → NP_001123306.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), also referred to as HLCC71, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 8), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34811
    Consensus CDS
    CCDS44793.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382530.1, ENST00000399621.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1673 → 2105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  9. NM_001129835.2 → NP_001123307.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), also referred to has HLCC72, lacks three alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 9), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z74996
    Consensus CDS
    CCDS44799.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382546.1, ENST00000399637.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1650
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1673 → 2105
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  10. NM_001129836.2 → NP_001123308.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), also referred to has HLCC89, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 10), compared to isoform 1. This isoform (10) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AC005342, AC007618, Z34820
    Consensus CDS
    CCDS44797.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382537.1, ENST00000399629.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1504
    Ion_trans; Ion transport protein
    pfam08763
    Location:1577 → 1648
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1671 → 2103
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1512 → 1575
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  11. NM_001129837.2 → NP_001123309.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), also referred to as HLCC73, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 11), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34812
    Consensus CDS
    CCDS44795.1
    UniProtKB/TrEMBL
    A0A804HKE9
    Related
    ENSP00000382504.1, ENST00000399595.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1476
    Ion_trans; Ion transport protein
    pfam08763
    Location:1549 → 1639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1662 → 2094
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1484 → 1547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  12. NM_001129838.2 → NP_001123310.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), also referred to has HLCC74, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 12), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34813
    Consensus CDS
    CCDS44801.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382500.1, ENST00000399591.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1476
    Ion_trans; Ion transport protein
    pfam08763
    Location:1549 → 1639
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1662 → 2094
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1484 → 1547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  13. NM_001129839.2 → NP_001123311.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), also referred to has HLCC125, lacks four alternate in-frame exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 13), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AY830711
    Consensus CDS
    CCDS44796.1
    UniProtKB/TrEMBL
    A0A804HKE9
    Related
    ENSP00000382557.1, ENST00000399649.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1474
    Ion_trans; Ion transport protein
    pfam08763
    Location:1547 → 1637
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1660 → 2092
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1482 → 1545
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  14. NM_001129840.2 → NP_001123312.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 14

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), also referred to has HLCC105, lacks four alternate in-frame exons and contains an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 14), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AJ224873
    Consensus CDS
    CCDS44787.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382549.1, ENST00000399641.6
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  15. NM_001129841.2 → NP_001123313.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), also referred to has HLCC69, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 15), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34809
    Consensus CDS
    CCDS44798.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382552.1, ENST00000399644.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  16. NM_001129842.2 → NP_001123314.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 16

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), also referred to has HLCC78, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 16), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34816
    Consensus CDS
    CCDS44791.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382506.1, ENST00000399597.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  17. NM_001129843.2 → NP_001123315.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 17

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), also referred to has HLCC77, lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 17), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34815
    Consensus CDS
    CCDS44800.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382510.1, ENST00000399601.5
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  18. NM_001129844.2 → NP_001123316.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 19

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 19), compared to isoform 1.
    Source sequence(s)
    AC005342, AC005866, AC007618, BC146846
    Consensus CDS
    CCDS91637.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000507169.1, ENST00000683482.1
    Conserved Domains (5) summary
    pfam00520
    Location:1233 → 1484
    Ion_trans; Ion transport protein
    pfam08763
    Location:1557 → 1628
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1651 → 2083
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1492 → 1555
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  19. NM_001129846.2 → NP_001123318.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 20

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), also referred to as HLCC76, lacks four alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 20), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, Z34814
    Consensus CDS
    CCDS91636.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000507309.1, ENST00000682686.1
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1476
    Ion_trans; Ion transport protein
    pfam08763
    Location:1549 → 1620
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1643 → 2075
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1484 → 1547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  20. NM_001167623.2 → NP_001161095.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 21

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) lacks four alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 21), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, L29536, Z34816
    Consensus CDS
    CCDS53734.1
    UniProtKB/TrEMBL
    A0A804HIZ0
    Related
    ENSP00000382512.1, ENST00000399603.6
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1560 → 1631
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1654 → 2086
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1495 → 1558
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  21. NM_001167624.3 → NP_001161096.2  voltage-dependent L-type calcium channel subunit alpha-1C isoform 22

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform 22), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, AK309111, KF455578, L29534, Z34816
    Consensus CDS
    CCDS53733.1
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    UniProtKB/TrEMBL
    A0A0A0MSA1
    Related
    ENSP00000382526.1, ENST00000399617.6
    Conserved Domains (4) summary
    pfam00520
    Location:1218 → 1487
    Ion_trans; Ion transport protein
    pfam08763
    Location:1559 → 1633
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1653 → 2123
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1496 → 1549
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  22. NM_001167625.2 → NP_001161097.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform 23

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23) lacks five alternate in-frame exons and contains another two alternate in-frame exons compared to variant 1, resulting in a shorter protein (isoform 23), compared to isoform 1.
    Source sequence(s)
    AC005342, AC007618, AF465484, L29529, Z34814
    Consensus CDS
    CCDS91634.1
    UniProtKB/TrEMBL
    E9PDI6, F5GY28
    Related
    ENSP00000382542.2, ENST00000399634.6
    Conserved Domains (5) summary
    pfam00520
    Location:1236 → 1476
    Ion_trans; Ion transport protein
    pfam08763
    Location:1549 → 1620
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1880 → 2146
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1484 → 1547
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  23. NM_199460.4 → NP_955630.3  voltage-dependent L-type calcium channel subunit alpha-1C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also referred to as HFCC, encodes the longest isoform (1). This isoform (1) is predicted to form a non-functional calcium channel subunit because it contains an aberrant number of transmembrane domains.
    Source sequence(s)
    AB209016, AC005342, AC007618, AF465484, AK309111, AY562395, KF455578, L29534, L29536, Z34816, Z34822
    UniProtKB/Swiss-Prot
    B2RUT3, E9PDJ0, Q13917, Q13918, Q13919, Q13920, Q13921, Q13922, Q13923, Q13924, Q13925, Q13926, Q13927, Q13928, Q13929, Q13930, Q13932, Q13933, Q13936, Q14743, Q14744, Q15877, Q4VMI7, Q4VMI8, Q4VMI9
    Related
    ENSP00000507184.1, ENST00000682544.1
    Conserved Domains (4) summary
    pfam00520
    Location:123 → 416
    Ion_trans; Ion transport protein
    pfam08763
    Location:1607 → 1681
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1701 → 2171
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1544 → 1597
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    1970780..2697950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019926.3 → XP_016875415.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    UniProtKB/TrEMBL
    A0A804HIR0

  2. XM_017019934.3 → XP_016875423.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    UniProtKB/TrEMBL
    A0A804HJR1

  3. XM_017019946.3 → XP_016875435.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    UniProtKB/TrEMBL
    A0A804HJR1

  4. XM_017019943.3 → XP_016875432.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    UniProtKB/TrEMBL
    A0A804HJR1

  5. XM_017019932.3 → XP_016875421.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    UniProtKB/TrEMBL
    F5GY28

  6. XM_017019949.3 → XP_016875438.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    UniProtKB/TrEMBL
    A0A804HJR1

  7. XM_017019947.3 → XP_016875436.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    UniProtKB/TrEMBL
    A0A804HJR1
    Related
    ENSP00000507612.1, ENST00000683840.1

  8. XM_017019950.3 → XP_016875439.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    UniProtKB/TrEMBL
    A0A804HJR1

  9. XM_017019927.3 → XP_016875416.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    UniProtKB/TrEMBL
    A0A804HIR0

  10. XM_017019928.3 → XP_016875417.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    UniProtKB/TrEMBL
    A0A804HIR0

  11. XM_047429513.1 → XP_047285469.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    UniProtKB/TrEMBL
    A0A804HIR0

  12. XM_017019929.3 → XP_016875418.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    UniProtKB/TrEMBL
    A0A804HIR0

  13. XM_047429514.1 → XP_047285470.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    UniProtKB/TrEMBL
    A0A804HIR0

  14. XM_047429515.1 → XP_047285471.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    UniProtKB/TrEMBL
    A0A804HJR1

  15. XM_047429516.1 → XP_047285472.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    UniProtKB/TrEMBL
    A0A804HJR1

  16. XM_047429517.1 → XP_047285473.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    UniProtKB/TrEMBL
    A0A804HJR1

  17. XM_017019930.3 → XP_016875419.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    UniProtKB/TrEMBL
    A0A804HJR1

  18. XM_017019931.3 → XP_016875420.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    UniProtKB/TrEMBL
    A0A804HJR1

  19. XM_047429518.1 → XP_047285474.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    UniProtKB/TrEMBL
    A0A804HJR1

  20. XM_017019935.3 → XP_016875424.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    UniProtKB/TrEMBL
    A0A804HJR1

  21. XM_047429519.1 → XP_047285475.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    UniProtKB/TrEMBL
    A0A804HJR1

  22. XM_017019955.3 → XP_016875444.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    UniProtKB/TrEMBL
    A0A804HJR1

  23. XM_017019933.3 → XP_016875422.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    UniProtKB/TrEMBL
    A0A804HIR0

  24. XM_017019944.3 → XP_016875433.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    UniProtKB/TrEMBL
    A0A804HJR1

  25. XM_017019939.3 → XP_016875428.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    UniProtKB/TrEMBL
    A0A804HJR1

  26. XM_017019948.3 → XP_016875437.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    UniProtKB/TrEMBL
    A0A804HJR1

  27. XM_017019945.3 → XP_016875434.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    UniProtKB/TrEMBL
    A0A804HJR1

  28. XM_011521020.3 → XP_011519322.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

    UniProtKB/TrEMBL
    A0A804HJR1, A0A804HKC4
    Related
    ENSP00000507867.1, ENST00000683824.1
    Conserved Domains (5) summary
    pfam00520
    Location:1291 → 1542
    Ion_trans; Ion transport protein
    pfam08763
    Location:1615 → 1686
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1709 → 2141
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1550 → 1613
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:232 → 321
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  29. XM_017019954.2 → XP_016875443.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

    UniProtKB/TrEMBL
    A0A804HIJ8, A0A804HJR1
    Related
    ENSP00000507105.1, ENST00000682462.1

  30. XM_006719017.3 → XP_006719080.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

    UniProtKB/TrEMBL
    A0A804HJB6, A0A804HJR1
    Related
    ENSP00000507434.1, ENST00000683781.1
    Conserved Domains (5) summary
    pfam00520
    Location:1266 → 1517
    Ion_trans; Ion transport protein
    pfam08763
    Location:1590 → 1661
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1684 → 2116
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1525 → 1588
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:232 → 321
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  31. XM_017019953.2 → XP_016875442.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

    UniProtKB/TrEMBL
    A0A804HI37, A0A804HJR1
    Related
    ENSP00000506882.1, ENST00000683956.1

  32. XM_011521023.4 → XP_011519325.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

    UniProtKB/TrEMBL
    A0A804HKE9, F5H522
    Related
    ENSP00000336982.5, ENST00000335762.10
    Conserved Domains (5) summary
    pfam00520
    Location:1261 → 1512
    Ion_trans; Ion transport protein
    pfam08763
    Location:1585 → 1656
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16885
    Location:1679 → 2111
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
    pfam16905
    Location:1520 → 1583
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl01503
    Location:202 → 291
    TrbL; TrbL/VirB6 plasmid conjugal transfer protein

  33. XM_047429520.1 → XP_047285476.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    UniProtKB/TrEMBL
    A0A804HKE9

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654718.1 Reference GRCh38.p14 PATCHES

    Range
    311696..1046066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332286.1 → XP_054188261.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    UniProtKB/TrEMBL
    A0A804HIR0

  2. XM_054332301.1 → XP_054188276.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    UniProtKB/TrEMBL
    A0A804HJR1

  3. XM_054332305.1 → XP_054188280.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    UniProtKB/TrEMBL
    A0A804HJR1

  4. XM_054332304.1 → XP_054188279.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    UniProtKB/TrEMBL
    A0A804HJR1

  5. XM_054332296.1 → XP_054188271.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    UniProtKB/TrEMBL
    F5GY28

  6. XM_054332310.1 → XP_054188285.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    UniProtKB/TrEMBL
    A0A804HJR1

  7. XM_054332308.1 → XP_054188283.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    UniProtKB/TrEMBL
    A0A804HJR1

  8. XM_054332311.1 → XP_054188286.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    UniProtKB/TrEMBL
    A0A804HJR1

  9. XM_054332287.1 → XP_054188262.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    UniProtKB/TrEMBL
    A0A804HIR0

  10. XM_054332289.1 → XP_054188264.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    UniProtKB/TrEMBL
    A0A804HIR0

  11. XM_054332288.1 → XP_054188263.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    UniProtKB/TrEMBL
    A0A804HIR0

  12. XM_054332290.1 → XP_054188265.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    UniProtKB/TrEMBL
    A0A804HIR0

  13. XM_054332292.1 → XP_054188267.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    UniProtKB/TrEMBL
    A0A804HIR0

  14. XM_054332293.1 → XP_054188268.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    UniProtKB/TrEMBL
    A0A804HJR1

  15. XM_054332295.1 → XP_054188270.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    UniProtKB/TrEMBL
    A0A804HJR1

  16. XM_054332297.1 → XP_054188272.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    UniProtKB/TrEMBL
    A0A804HJR1

  17. XM_054332291.1 → XP_054188266.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    UniProtKB/TrEMBL
    A0A804HJR1

  18. XM_054332294.1 → XP_054188269.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    UniProtKB/TrEMBL
    A0A804HJR1

  19. XM_054332298.1 → XP_054188273.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    UniProtKB/TrEMBL
    A0A804HJR1

  20. XM_054332300.1 → XP_054188275.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    UniProtKB/TrEMBL
    A0A804HJR1

  21. XM_054332302.1 → XP_054188277.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    UniProtKB/TrEMBL
    A0A804HJR1

  22. XM_054332317.1 → XP_054188292.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    UniProtKB/TrEMBL
    A0A804HJR1

  23. XM_054332299.1 → XP_054188274.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    UniProtKB/TrEMBL
    A0A804HIR0

  24. XM_054332306.1 → XP_054188281.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    UniProtKB/TrEMBL
    A0A804HJR1

  25. XM_054332303.1 → XP_054188278.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    UniProtKB/TrEMBL
    A0A804HJR1

  26. XM_054332309.1 → XP_054188284.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    UniProtKB/TrEMBL
    A0A804HJR1

  27. XM_054332307.1 → XP_054188282.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    UniProtKB/TrEMBL
    A0A804HJR1

  28. XM_054332313.1 → XP_054188288.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

    UniProtKB/TrEMBL
    A0A804HJR1, A0A804HKC4

  29. XM_054332316.1 → XP_054188291.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

    UniProtKB/TrEMBL
    A0A804HIJ8, A0A804HJR1

  30. XM_054332315.1 → XP_054188290.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

    UniProtKB/TrEMBL
    A0A804HJB6, A0A804HJR1

  31. XM_054332314.1 → XP_054188289.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

    UniProtKB/TrEMBL
    A0A804HI37, A0A804HJR1

  32. XM_054332318.1 → XP_054188293.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

    UniProtKB/TrEMBL
    A0A804HKE9, F5H522

  33. XM_054332312.1 → XP_054188287.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    UniProtKB/TrEMBL
    A0A804HKE9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    1965666..2703402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373150.1 → XP_054229125.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X1

    UniProtKB/TrEMBL
    A0A804HIR0

  2. XM_054373165.1 → XP_054229140.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X16

    UniProtKB/TrEMBL
    A0A804HJR1

  3. XM_054373169.1 → XP_054229144.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X20

    UniProtKB/TrEMBL
    A0A804HJR1

  4. XM_054373168.1 → XP_054229143.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X19

    UniProtKB/TrEMBL
    A0A804HJR1

  5. XM_054373160.1 → XP_054229135.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X11

    UniProtKB/TrEMBL
    F5GY28

  6. XM_054373174.1 → XP_054229149.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X25

    UniProtKB/TrEMBL
    A0A804HJR1

  7. XM_054373172.1 → XP_054229147.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X23

    UniProtKB/TrEMBL
    A0A804HJR1

  8. XM_054373175.1 → XP_054229150.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X26

    UniProtKB/TrEMBL
    A0A804HJR1

  9. XM_054373151.1 → XP_054229126.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X2

    UniProtKB/TrEMBL
    A0A804HIR0

  10. XM_054373153.1 → XP_054229128.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X4

    UniProtKB/TrEMBL
    A0A804HIR0

  11. XM_054373152.1 → XP_054229127.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X3

    UniProtKB/TrEMBL
    A0A804HIR0

  12. XM_054373154.1 → XP_054229129.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X5

    UniProtKB/TrEMBL
    A0A804HIR0

  13. XM_054373156.1 → XP_054229131.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X7

    UniProtKB/TrEMBL
    A0A804HIR0

  14. XM_054373157.1 → XP_054229132.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X8

    UniProtKB/TrEMBL
    A0A804HJR1

  15. XM_054373159.1 → XP_054229134.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X10

    UniProtKB/TrEMBL
    A0A804HJR1

  16. XM_054373161.1 → XP_054229136.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X12

    UniProtKB/TrEMBL
    A0A804HJR1

  17. XM_054373155.1 → XP_054229130.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X6

    UniProtKB/TrEMBL
    A0A804HJR1

  18. XM_054373158.1 → XP_054229133.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X9

    UniProtKB/TrEMBL
    A0A804HJR1

  19. XM_054373162.1 → XP_054229137.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X13

    UniProtKB/TrEMBL
    A0A804HJR1

  20. XM_054373164.1 → XP_054229139.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X15

    UniProtKB/TrEMBL
    A0A804HJR1

  21. XM_054373166.1 → XP_054229141.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X17

    UniProtKB/TrEMBL
    A0A804HJR1

  22. XM_054373181.1 → XP_054229156.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X32

    UniProtKB/TrEMBL
    A0A804HJR1

  23. XM_054373163.1 → XP_054229138.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X14

    UniProtKB/TrEMBL
    A0A804HIR0

  24. XM_054373170.1 → XP_054229145.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X21

    UniProtKB/TrEMBL
    A0A804HJR1

  25. XM_054373167.1 → XP_054229142.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X18

    UniProtKB/TrEMBL
    A0A804HJR1

  26. XM_054373173.1 → XP_054229148.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X24

    UniProtKB/TrEMBL
    A0A804HJR1

  27. XM_054373171.1 → XP_054229146.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X22

    UniProtKB/TrEMBL
    A0A804HJR1

  28. XM_054373177.1 → XP_054229152.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X28

    UniProtKB/TrEMBL
    A0A804HJR1, A0A804HKC4

  29. XM_054373180.1 → XP_054229155.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X31

    UniProtKB/TrEMBL
    A0A804HIJ8, A0A804HJR1

  30. XM_054373179.1 → XP_054229154.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X30

    UniProtKB/TrEMBL
    A0A804HJB6, A0A804HJR1

  31. XM_054373178.1 → XP_054229153.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X29

    UniProtKB/TrEMBL
    A0A804HI37, A0A804HJR1

  32. XM_054373182.1 → XP_054229157.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X33

    UniProtKB/TrEMBL
    A0A804HKE9, F5H522

  33. XM_054373176.1 → XP_054229151.1  voltage-dependent L-type calcium channel subunit alpha-1C isoform X27

    UniProtKB/TrEMBL
    A0A804HKE9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13936.4 GenPept UniProtKB/Swiss-Prot:Q13936

Gene LinkOut

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