Canonical Allele Identifier: CA9240830

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 392083
• ClinVar RCV Id: RCV000420690 ; RCV000658823 ; RCV000795075 ; RCV002311506 ; RCV003319199
• dbSNP Id: rs561858384
• ExAC: 19:13428120 C / T
• gnomAD v2: 19-13428120-C-T
• gnomAD v3: 19-13317306-C-T
• gnomAD v4: 19-13317306-C-T
• COSMIC: COSM84496 ; COSM3388617 ; COSM3388618 ; COSM3388619
• MyVariant Identifiers: chr19:g.13428120C>T (hg19) ; chr19:g.13317306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13317306C>T , CM000681.2:g.13317306C>T	GRCh38
NC_000019.9:g.13428120C>T , CM000681.1:g.13428120C>T	GRCh37
NC_000019.8:g.13289120C>T	NCBI36
NG_011569.1:g.194155G>A , LRG_7:g.194155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.1361G>A MANE Select	ENSP00000353362.5:p.Arg454Gln
ENST00000573710.7:c.1367G>A	ENSP00000460092.3:p.Arg456Gln
ENST00000635727.1:c.1364G>A	ENSP00000490001.1:p.Arg455Gln
ENST00000635895.1:c.1364G>A	ENSP00000490323.1:p.Arg455Gln
ENST00000636012.1:c.1364G>A	ENSP00000490223.1:p.Arg455Gln
ENST00000636022.1:n.228G>A
ENST00000636389.1:c.1364G>A	ENSP00000489992.1:p.Arg455Gln
ENST00000636549.1:c.1364G>A	ENSP00000490578.1:p.Arg455Gln
ENST00000636974.1:n.723G>A
ENST00000637276.1:c.1364G>A	ENSP00000489777.1:p.Arg455Gln
ENST00000637432.1:c.1364G>A	ENSP00000490617.1:p.Arg455Gln
ENST00000637736.1:c.1223G>A	ENSP00000489861.1:p.Arg408Gln
ENST00000637769.1:c.1364G>A	ENSP00000489778.1:p.Arg455Gln
ENST00000637927.1:c.1367G>A	ENSP00000489715.1:p.Arg456Gln
ENST00000637966.1:n.1217G>A
ENST00000638009.2:c.1364G>A	ENSP00000489913.1:p.Arg455Gln
ENST00000638029.1:c.1364G>A	ENSP00000489829.1:p.Arg455Gln
ENST00000664864.1:c.1559G>A	ENSP00000499449.1:p.Arg520Gln
ENST00000360228.9:c.1361G>A	ENSP00000353362.5:p.Arg454Gln
ENST00000573710.6:c.1364G>A	ENSP00000460092.2:p.Arg455Gln
ENST00000614285.4:c.1364G>A	ENSP00000479983.1:p.Arg455Gln
NM_000068.3:c.1364G>A	NP_000059.3:p.Arg455Gln
NM_001127221.1:c.1364G>A , LRG_7t1:c.1364G>A	NP_001120693.1:p.Arg455Gln
NM_001127222.1:c.1361G>A	NP_001120694.1:p.Arg454Gln
NM_001174080.1:c.1364G>A	NP_001167551.1:p.Arg455Gln
NM_023035.2:c.1364G>A	NP_075461.2:p.Arg455Gln
NM_000068.4:c.1364G>A	NP_000059.3:p.Arg455Gln
NM_001127222.2:c.1361G>A MANE Select	NP_001120694.1:p.Arg454Gln
NM_001174080.2:c.1364G>A	NP_001167551.1:p.Arg455Gln
NM_023035.3:c.1364G>A	NP_075461.2:p.Arg455Gln
NM_001127221.2:c.1364G>A	NP_001120693.1:p.Arg455Gln