Canonical Allele Identifier: CA9240397

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 446915
• ClinVar RCV Id: RCV000518167 ; RCV002323878 ; RCV000810178
• dbSNP Id: rs200850308
• ExAC: 19:13397703 C / T
• gnomAD v2: 19-13397703-C-T
• gnomAD v3: 19-13286889-C-T
• gnomAD v4: 19-13286889-C-T
• COSMIC: COSM3989728 ; COSM3989729 ; COSM3989730 ; COSM3989731
• MyVariant Identifiers: chr19:g.13397703C>T (hg19) ; chr19:g.13286889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13286889C>T , CM000681.2:g.13286889C>T	GRCh38
NC_000019.9:g.13397703C>T , CM000681.1:g.13397703C>T	GRCh37
NC_000019.8:g.13258703C>T	NCBI36
NG_011569.1:g.224572G>A , LRG_7:g.224572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3167G>A MANE Select	ENSP00000353362.5:p.Arg1056His
ENST00000573710.7:c.3173G>A	ENSP00000460092.3:p.Arg1058His
ENST00000635727.1:c.3170G>A	ENSP00000490001.1:p.Arg1057His
ENST00000635895.1:c.3170G>A	ENSP00000490323.1:p.Arg1057His
ENST00000636012.1:c.3170G>A	ENSP00000490223.1:p.Arg1057His
ENST00000636389.1:c.3170G>A	ENSP00000489992.1:p.Arg1057His
ENST00000636549.1:c.3170G>A	ENSP00000490578.1:p.Arg1057His
ENST00000637276.1:c.3170G>A	ENSP00000489777.1:p.Arg1057His
ENST00000637432.1:c.3179G>A	ENSP00000490617.1:p.Arg1060His
ENST00000637736.1:c.3029G>A	ENSP00000489861.1:p.Arg1010His
ENST00000637769.1:c.3170G>A	ENSP00000489778.1:p.Arg1057His
ENST00000637927.1:c.3173G>A	ENSP00000489715.1:p.Arg1058His
ENST00000638009.2:c.3170G>A	ENSP00000489913.1:p.Arg1057His
ENST00000638029.1:c.3179G>A	ENSP00000489829.1:p.Arg1060His
ENST00000664864.1:c.3365G>A	ENSP00000499449.1:p.Arg1122His
ENST00000360228.9:c.3167G>A	ENSP00000353362.5:p.Arg1056His
ENST00000573710.6:c.3170G>A	ENSP00000460092.2:p.Arg1057His
ENST00000614285.4:c.3179G>A	ENSP00000479983.1:p.Arg1060His
NM_000068.3:c.3179G>A	NP_000059.3:p.Arg1060His
NM_001127221.1:c.3170G>A , LRG_7t1:c.3170G>A	NP_001120693.1:p.Arg1057His
NM_001127222.1:c.3167G>A	NP_001120694.1:p.Arg1056His
NM_001174080.1:c.3170G>A	NP_001167551.1:p.Arg1057His
NM_023035.2:c.3179G>A	NP_075461.2:p.Arg1060His
NM_000068.4:c.3179G>A	NP_000059.3:p.Arg1060His
NM_001127222.2:c.3167G>A MANE Select	NP_001120694.1:p.Arg1056His
NM_001174080.2:c.3170G>A	NP_001167551.1:p.Arg1057His
NM_023035.3:c.3179G>A	NP_075461.2:p.Arg1060His
NM_001127221.2:c.3170G>A	NP_001120693.1:p.Arg1057His