Canonical Allele Identifier: CA9240940

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 288880
• ClinVar RCV Id: RCV000357921 ; RCV000726240 ; RCV001087586 ; RCV003985318
• dbSNP Id: rs111366222
• ExAC: 19:13470411 A / G
• gnomAD v2: 19-13470411-A-G
• gnomAD v3: 19-13359597-A-G
• gnomAD v4: 19-13359597-A-G
• MyVariant Identifiers: chr19:g.13470411A>G (hg19) ; chr19:g.13359597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13359597A>G , CM000681.2:g.13359597A>G	GRCh38
NC_000019.9:g.13470411A>G , CM000681.1:g.13470411A>G	GRCh37
NC_000019.8:g.13331411A>G	NCBI36
NG_011569.1:g.151864T>C , LRG_7:g.151864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.978+9T>C MANE Select	ENSP00000353362.5:n.978+9T>C
ENST00000573710.7:c.978+9T>C	ENSP00000460092.3:n.978+9T>C
ENST00000593160.2:n.693+9T>C
ENST00000635727.1:c.978+9T>C	ENSP00000490001.1:n.978+9T>C
ENST00000635895.1:c.978+9T>C	ENSP00000490323.1:n.978+9T>C
ENST00000636012.1:c.978+9T>C	ENSP00000490223.1:n.978+9T>C
ENST00000636389.1:c.978+9T>C	ENSP00000489992.1:n.978+9T>C
ENST00000636549.1:c.978+9T>C	ENSP00000490578.1:n.978+9T>C
ENST00000636974.1:n.337+9T>C
ENST00000637276.1:c.978+9T>C	ENSP00000489777.1:n.978+9T>C
ENST00000637432.1:c.978+9T>C	ENSP00000490617.1:n.978+9T>C
ENST00000637736.1:c.837+9T>C	ENSP00000489861.1:n.837+9T>C
ENST00000637769.1:c.978+9T>C	ENSP00000489778.1:n.978+9T>C
ENST00000637927.1:c.978+9T>C	ENSP00000489715.1:n.978+9T>C
ENST00000637966.1:n.831+9T>C
ENST00000638009.2:c.978+9T>C	ENSP00000489913.1:n.978+9T>C
ENST00000638029.1:c.978+9T>C	ENSP00000489829.1:n.978+9T>C
ENST00000664864.1:c.1173+9T>C	ENSP00000499449.1:n.1173+9T>C
ENST00000360228.9:c.978+9T>C	ENSP00000353362.5:n.978+9T>C
ENST00000573710.6:c.978+9T>C	ENSP00000460092.2:n.978+9T>C
ENST00000593160.1:n.198+9T>C
ENST00000614285.4:c.978+9T>C	ENSP00000479983.1:n.978+9T>C
NM_000068.3:c.978+9T>C	NP_000059.3:n.978+9T>C
NM_001127221.1:c.978+9T>C , LRG_7t1:c.978+9T>C	NP_001120693.1:n.978+9T>C
NM_001127222.1:c.978+9T>C	NP_001120694.1:n.978+9T>C
NM_001174080.1:c.978+9T>C	NP_001167551.1:n.978+9T>C
NM_023035.2:c.978+9T>C	NP_075461.2:n.978+9T>C
NM_000068.4:c.978+9T>C	NP_000059.3:n.978+9T>C
NM_001127222.2:c.978+9T>C MANE Select	NP_001120694.1:n.978+9T>C
NM_001174080.2:c.978+9T>C	NP_001167551.1:n.978+9T>C
NM_023035.3:c.978+9T>C	NP_075461.2:n.978+9T>C
NM_001127221.2:c.978+9T>C	NP_001120693.1:n.978+9T>C