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_001129827.1, NM_001129829.1, NM_001129830.1, NM_001129831.1, NM_001129832.1, NM_001129833.1, NM_001129834.1, NM_001129835.1, NM_001129836.1, NM_001129837.1, NM_001129838.1, NM_001129839.1, NM_001129840.1, NM_001129841.1, NM_001129842.1, NM_001129843.1, NM_001129844.1, NM_001129846.1, NM_001167623.1, NM_001167624.1, NM_001167625.1, NM_199460.2, XM_005253765.1, XM_005253766.1, XM_005253767.1, XM_005253768.1, XM_005253769.1, XM_005253770.1, XM_005253771.1, XM_005253772.1, XM_005253773.1, XM_005253774.1, XM_005253775.1, XM_005253776.1, XM_005253777.1, XM_005253778.1, XM_005253779.1, XM_005253780.1, XM_005253781.1, XM_005253782.1, XM_005253783.1, XM_005253784.1, XM_005253785.1, XM_005253786.1, XM_005253787.1, XM_005253788.1
Associated with diseases BRGDA-3, ID, Timothy
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 333
Unique public DNA variants reported 36
Individuals with public variants 35
Hidden variants 4854
Date created October 29, 2013
Date last updated September 28, 2016
Version CACNA1C:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:1390
Entrez Gene 775
PubMed articles CACNA1C
OMIM - Gene 114205
OMIM - Diseases BRGDA-3 (Brugada syndrome, type 3 (BRGDA-3))
Timothy (Timothy syndrome)
HGMD CACNA1C
GeneCards CACNA1C
GeneTests CACNA1C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016061 12 Manually created transcript. (removed from reference sequence) NM_001167624.1 - 287
00016048 12 Manually created transcript. (removed from reference sequence) NM_001129830.1 - 279
00016063 12 Manually created transcript. (removed from reference sequence) NM_199460.2 - 279
00016047 12 Manually created transcript. (removed from reference sequence) NM_001129829.1 - 219
00016062 12 Manually created transcript. (removed from reference sequence) NM_001167625.1 - 214
00001163 12 transcript variant 14 NM_001129840.1 NP_001123312.1 199
00016060 12 Manually created transcript. (removed from reference sequence) NM_001167623.1 - 198
00016045 12 Manually created transcript. (removed from reference sequence) NM_000719.6 - 190
00016046 12 Manually created transcript. NM_001129827.1 - 190
00016049 12 Manually created transcript. (removed from reference sequence) NM_001129831.1 - 190
00016050 12 Manually created transcript. (removed from reference sequence) NM_001129832.1 - 190
00016052 12 Manually created transcript. (removed from reference sequence) NM_001129834.1 - 190
00016053 12 Manually created transcript. (removed from reference sequence) NM_001129835.1 - 190
00016057 12 Manually created transcript. (removed from reference sequence) NM_001129843.1 - 190
00001162 12 transcript variant 11 NM_001129837.1 NP_001123309.1 189
00001164 12 transcript variant 10 NM_001129836.1 NP_001123308.1 189
00001165 12 transcript variant 15 NM_001129841.1 NP_001123313.1 189
00016051 12 Manually created transcript. (removed from reference sequence) NM_001129833.1 - 189
00016054 12 Manually created transcript. (removed from reference sequence) NM_001129838.1 - 189
00016055 12 Manually created transcript. (removed from reference sequence) NM_001129839.1 - 189
00016056 12 Manually created transcript. (removed from reference sequence) NM_001129842.1 - 189
00016059 12 Manually created transcript. NM_001129846.1 - 189
00016058 12 Manually created transcript. (removed from reference sequence) NM_001129844.1 - 180
00034902 12 transcript variant X10 XM_005253774.1 XP_005253831.1 -
00034903 12 transcript variant X18 XM_005253782.1 XP_005253839.1 -
00034904 12 transcript variant X7 XM_005253771.1 XP_005253828.1 -
00034905 12 transcript variant X5 XM_005253769.1 XP_005253826.1 -
00034906 12 transcript variant X16 XM_005253780.1 XP_005253837.1 -
00034907 12 transcript variant X22 XM_005253786.1 XP_005253843.1 -
00034908 12 transcript variant X17 XM_005253781.1 XP_005253838.1 -
00034909 12 transcript variant X23 XM_005253787.1 XP_005253844.1 -
00034910 12 transcript variant X15 XM_005253779.1 XP_005253836.1 -
00034911 12 transcript variant X21 XM_005253785.1 XP_005253842.1 -
00034912 12 transcript variant X3 XM_005253767.1 XP_005253824.1 -
00034913 12 transcript variant X11 XM_005253775.1 XP_005253832.1 -
00034914 12 transcript variant X2 XM_005253766.1 XP_005253823.1 -
00034915 12 transcript variant X9 XM_005253773.1 XP_005253830.1 -
00034916 12 transcript variant X6 XM_005253770.1 XP_005253827.1 -
00034917 12 transcript variant X1 XM_005253765.1 XP_005253822.1 -
00034918 12 transcript variant X4 XM_005253768.1 XP_005253825.1 -
00034919 12 transcript variant X19 XM_005253783.1 XP_005253840.1 -
00034920 12 transcript variant X8 XM_005253772.1 XP_005253829.1 -
00034921 12 transcript variant X14 XM_005253778.1 XP_005253835.1 -
00034922 12 transcript variant X13 XM_005253777.1 XP_005253834.1 -
00034923 12 transcript variant X20 XM_005253784.1 XP_005253841.1 -
00034924 12 transcript variant X12 XM_005253776.1 XP_005253833.1 -
00034925 12 transcript variant X24 XM_005253788.1 XP_005253845.1 -


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