Canonical Allele Identifier: CA9240064

Gene: CACNA1A

Linked Data

• dbSNP Id: rs766816378
• ExAC: 19:13372325 G / A
• gnomAD v2: 19-13372325-G-A
• gnomAD v4: 19-13261511-G-A
• MyVariant Identifiers: chr19:g.13372325G>A (hg19) ; chr19:g.13261511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261511G>A , CM000681.2:g.13261511G>A	GRCh38
NC_000019.9:g.13372325G>A , CM000681.1:g.13372325G>A	GRCh37
NC_000019.8:g.13233325G>A	NCBI36
NG_011569.1:g.249950C>T , LRG_7:g.249950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4189C>T MANE Select	ENSP00000353362.5:p.Leu1397Phe
ENST00000573710.7:c.4195C>T	ENSP00000460092.3:p.Leu1399Phe
ENST00000590205.2:n.1195C>T
ENST00000635727.1:c.4192C>T	ENSP00000490001.1:p.Leu1398Phe
ENST00000635742.1:n.178C>T
ENST00000635895.1:c.4192C>T	ENSP00000490323.1:p.Leu1398Phe
ENST00000635917.1:n.681C>T
ENST00000636012.1:c.4192C>T	ENSP00000490223.1:p.Leu1398Phe
ENST00000636389.1:c.4192C>T	ENSP00000489992.1:p.Leu1398Phe
ENST00000636549.1:c.4192C>T	ENSP00000490578.1:p.Leu1398Phe
ENST00000636816.1:n.877C>T
ENST00000637004.1:n.655C>T
ENST00000637276.1:c.4192C>T	ENSP00000489777.1:p.Leu1398Phe
ENST00000637432.1:c.4201C>T	ENSP00000490617.1:p.Leu1401Phe
ENST00000637692.1:n.511C>T
ENST00000637736.1:c.4051C>T	ENSP00000489861.1:p.Leu1351Phe
ENST00000637769.1:c.4192C>T	ENSP00000489778.1:p.Leu1398Phe
ENST00000637927.1:c.4195C>T	ENSP00000489715.1:p.Leu1399Phe
ENST00000638009.2:c.4192C>T	ENSP00000489913.1:p.Leu1398Phe
ENST00000638029.1:c.4201C>T	ENSP00000489829.1:p.Leu1401Phe
ENST00000664864.1:c.4387C>T	ENSP00000499449.1:p.Leu1463Phe
ENST00000360228.9:c.4189C>T	ENSP00000353362.5:p.Leu1397Phe
ENST00000573710.6:c.4192C>T	ENSP00000460092.2:p.Leu1398Phe
ENST00000585802.5:c.247C>T	ENSP00000465598.1:p.Leu83Phe
ENST00000590205.1:n.268C>T
ENST00000614285.4:c.4201C>T	ENSP00000479983.1:p.Leu1401Phe
NM_000068.3:c.4201C>T	NP_000059.3:p.Leu1401Phe
NM_001127221.1:c.4192C>T , LRG_7t1:c.4192C>T	NP_001120693.1:p.Leu1398Phe
NM_001127222.1:c.4189C>T	NP_001120694.1:p.Leu1397Phe
NM_001174080.1:c.4192C>T	NP_001167551.1:p.Leu1398Phe
NM_023035.2:c.4201C>T	NP_075461.2:p.Leu1401Phe
NM_000068.4:c.4201C>T	NP_000059.3:p.Leu1401Phe
NM_001127222.2:c.4189C>T MANE Select	NP_001120694.1:p.Leu1397Phe
NM_001174080.2:c.4192C>T	NP_001167551.1:p.Leu1398Phe
NM_023035.3:c.4201C>T	NP_075461.2:p.Leu1401Phe
NM_001127221.2:c.4192C>T	NP_001120693.1:p.Leu1398Phe