Canonical Allele Identifier: CA9240470
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422044
dbSNP Id: rs771423362

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13298821C>G , CM000681.2:g.13298821C>G GRCh38
NC_000019.9:g.13409635C>G , CM000681.1:g.13409635C>G GRCh37
NC_000019.8:g.13270635C>G NCBI36
NG_011569.1:g.212640G>C , LRG_7:g.212640G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.2812G>C MANE Select ENSP00000353362.5:p.Gly938Arg
ENST00000573710.7:c.2818G>C ENSP00000460092.3:p.Gly940Arg
ENST00000635727.1:c.2815G>C ENSP00000490001.1:p.Gly939Arg
ENST00000635895.1:c.2815G>C ENSP00000490323.1:p.Gly939Arg
ENST00000636012.1:c.2815G>C ENSP00000490223.1:p.Gly939Arg
ENST00000636389.1:c.2815G>C ENSP00000489992.1:p.Gly939Arg
ENST00000636549.1:c.2815G>C ENSP00000490578.1:p.Gly939Arg
ENST00000637276.1:c.2815G>C ENSP00000489777.1:p.Gly939Arg
ENST00000637432.1:c.2824G>C ENSP00000490617.1:p.Gly942Arg
ENST00000637736.1:c.2674G>C ENSP00000489861.1:p.Gly892Arg
ENST00000637769.1:c.2815G>C ENSP00000489778.1:p.Gly939Arg
ENST00000637927.1:c.2818G>C ENSP00000489715.1:p.Gly940Arg
ENST00000638009.2:c.2815G>C ENSP00000489913.1:p.Gly939Arg
ENST00000638029.1:c.2824G>C ENSP00000489829.1:p.Gly942Arg
ENST00000664864.1:c.3010G>C ENSP00000499449.1:p.Gly1004Arg
ENST00000360228.9:c.2812G>C ENSP00000353362.5:p.Gly938Arg
ENST00000573710.6:c.2815G>C ENSP00000460092.2:p.Gly939Arg
ENST00000614285.4:c.2824G>C ENSP00000479983.1:p.Gly942Arg
NM_000068.3:c.2824G>C NP_000059.3:p.Gly942Arg
NM_001127221.1:c.2815G>C , LRG_7t1:c.2815G>C NP_001120693.1:p.Gly939Arg
NM_001127222.1:c.2812G>C NP_001120694.1:p.Gly938Arg
NM_001174080.1:c.2815G>C NP_001167551.1:p.Gly939Arg
NM_023035.2:c.2824G>C NP_075461.2:p.Gly942Arg
NM_000068.4:c.2824G>C NP_000059.3:p.Gly942Arg
NM_001127222.2:c.2812G>C MANE Select NP_001120694.1:p.Gly938Arg
NM_001174080.2:c.2815G>C NP_001167551.1:p.Gly939Arg
NM_023035.3:c.2824G>C NP_075461.2:p.Gly942Arg
NM_001127221.2:c.2815G>C NP_001120693.1:p.Gly939Arg