Canonical Allele Identifier: CA274488

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 187829
• ClinVar RCV Id: RCV000169641 ; RCV001052102 ; RCV000996802 ; RCV003985284
• dbSNP Id: rs786200963
• gnomAD v2: 19-13482497-C-T
• gnomAD v4: 19-13371683-C-T
• MyVariant Identifiers: chr19:g.13482497C>T (hg19) ; chr19:g.13371683C>T (hg38)
• PubMed: PMID:25735478

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371683C>T , CM000681.2:g.13371683C>T	GRCh38
NC_000019.9:g.13482497C>T , CM000681.1:g.13482497C>T	GRCh37
NC_000019.8:g.13343497C>T	NCBI36
NG_011569.1:g.139778G>A , LRG_7:g.139778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.631+5G>A MANE Select	ENSP00000353362.5:n.631+5G>A
ENST00000573710.7:c.631+5G>A	ENSP00000460092.3:n.631+5G>A
ENST00000593160.2:n.346+5G>A
ENST00000635727.1:c.631+5G>A	ENSP00000490001.1:n.631+5G>A
ENST00000635895.1:c.631+5G>A	ENSP00000490323.1:n.631+5G>A
ENST00000636012.1:c.631+5G>A	ENSP00000490223.1:n.631+5G>A
ENST00000636389.1:c.631+5G>A	ENSP00000489992.1:n.631+5G>A
ENST00000636549.1:c.631+5G>A	ENSP00000490578.1:n.631+5G>A
ENST00000636966.1:n.519+5G>A
ENST00000637276.1:c.631+5G>A	ENSP00000489777.1:n.631+5G>A
ENST00000637432.1:c.631+5G>A	ENSP00000490617.1:n.631+5G>A
ENST00000637736.1:c.490+5G>A	ENSP00000489861.1:n.490+5G>A
ENST00000637769.1:c.631+5G>A	ENSP00000489778.1:n.631+5G>A
ENST00000637927.1:c.631+5G>A	ENSP00000489715.1:n.631+5G>A
ENST00000637966.1:n.484+5G>A
ENST00000637981.1:n.454G>A
ENST00000638009.2:c.631+5G>A	ENSP00000489913.1:n.631+5G>A
ENST00000638029.1:c.631+5G>A	ENSP00000489829.1:n.631+5G>A
ENST00000664864.1:c.826+5G>A	ENSP00000499449.1:n.826+5G>A
ENST00000360228.9:c.631+5G>A	ENSP00000353362.5:n.631+5G>A
ENST00000573710.6:c.631+5G>A	ENSP00000460092.2:n.631+5G>A
ENST00000614285.4:c.631+5G>A	ENSP00000479983.1:n.631+5G>A
NM_000068.3:c.631+5G>A	NP_000059.3:n.631+5G>A
NM_001127221.1:c.631+5G>A , LRG_7t1:c.631+5G>A	NP_001120693.1:n.631+5G>A
NM_001127222.1:c.631+5G>A	NP_001120694.1:n.631+5G>A
NM_001174080.1:c.631+5G>A	NP_001167551.1:n.631+5G>A
NM_023035.2:c.631+5G>A	NP_075461.2:n.631+5G>A
NM_000068.4:c.631+5G>A	NP_000059.3:n.631+5G>A
NM_001127222.2:c.631+5G>A MANE Select	NP_001120694.1:n.631+5G>A
NM_001174080.2:c.631+5G>A	NP_001167551.1:n.631+5G>A
NM_023035.3:c.631+5G>A	NP_075461.2:n.631+5G>A
NM_001127221.2:c.631+5G>A	NP_001120693.1:n.631+5G>A