The CACNA1C gene homepage

General information
Gene symbol CACNA1C
Gene name calcium channel, voltage-dependent, L type, alpha 1C subunit
Chromosome 12
Chromosomal band p13.3
Imprinted Unknown
Genomic reference LRG_334
Transcript reference NM_000719.6, NM_199460.2
Exon/intron information NM_000719.6 exon/intron table, NM_199460.2 exon/intron table
Associated with diseases BRGDA3, ID, LQT8, TS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 415
Unique public DNA variants reported 308
Individuals with public variants 178
Hidden variants 38
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 13, 2012
Date last updated January 11, 2023
Version CACNA1C:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000719.6, NM_199460.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 1390
Entrez Gene 775
PubMed articles CACNA1C
OMIM - Gene 114205
OMIM - Diseases BRGDA3 (Brugada syndrome, type 3 (BRGDA-3))
LQT8 (Long QT syndrome 8)
TS (Timothy syndrome)
GeneCards CACNA1C
GeneTests CACNA1C
Orphanet CACNA1C

Active transcripts




NCBI ID     

NCBI Protein ID     

00001160 12 transcript variant 18 NM_000719.6 NP_000710.5 413
00024102 12 transcript variant 1 NM_199460.2 NP_955630.2 409

Copyright & disclaimer
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