Canonical Allele Identifier: CA9240285

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 425161
• ClinVar RCV Id: RCV000488137 ; RCV000818299 ; RCV001262317 ; RCV002525994
• dbSNP Id: rs373224251
• ExAC: 19:13397323 C / T
• gnomAD v2: 19-13397323-C-T
• gnomAD v3: 19-13286509-C-T
• gnomAD v4: 19-13286509-C-T
• MyVariant Identifiers: chr19:g.13397323C>T (hg19) ; chr19:g.13286509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13286509C>T , CM000681.2:g.13286509C>T	GRCh38
NC_000019.9:g.13397323C>T , CM000681.1:g.13397323C>T	GRCh37
NC_000019.8:g.13258323C>T	NCBI36
NG_011569.1:g.224952G>A , LRG_7:g.224952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.3547G>A MANE Select	ENSP00000353362.5:p.Val1183Ile
ENST00000573710.7:c.3553G>A	ENSP00000460092.3:p.Val1185Ile
ENST00000635727.1:c.3550G>A	ENSP00000490001.1:p.Val1184Ile
ENST00000635786.1:n.46G>A
ENST00000635895.1:c.3550G>A	ENSP00000490323.1:p.Val1184Ile
ENST00000635917.1:n.39G>A
ENST00000636012.1:c.3550G>A	ENSP00000490223.1:p.Val1184Ile
ENST00000636389.1:c.3550G>A	ENSP00000489992.1:p.Val1184Ile
ENST00000636549.1:c.3550G>A	ENSP00000490578.1:p.Val1184Ile
ENST00000637004.1:n.13G>A
ENST00000637276.1:c.3550G>A	ENSP00000489777.1:p.Val1184Ile
ENST00000637432.1:c.3559G>A	ENSP00000490617.1:p.Val1187Ile
ENST00000637736.1:c.3409G>A	ENSP00000489861.1:p.Val1137Ile
ENST00000637769.1:c.3550G>A	ENSP00000489778.1:p.Val1184Ile
ENST00000637927.1:c.3553G>A	ENSP00000489715.1:p.Val1185Ile
ENST00000638009.2:c.3550G>A	ENSP00000489913.1:p.Val1184Ile
ENST00000638029.1:c.3559G>A	ENSP00000489829.1:p.Val1187Ile
ENST00000664864.1:c.3745G>A	ENSP00000499449.1:p.Val1249Ile
ENST00000360228.9:c.3547G>A	ENSP00000353362.5:p.Val1183Ile
ENST00000573710.6:c.3550G>A	ENSP00000460092.2:p.Val1184Ile
ENST00000614285.4:c.3559G>A	ENSP00000479983.1:p.Val1187Ile
NM_000068.3:c.3559G>A	NP_000059.3:p.Val1187Ile
NM_001127221.1:c.3550G>A , LRG_7t1:c.3550G>A	NP_001120693.1:p.Val1184Ile
NM_001127222.1:c.3547G>A	NP_001120694.1:p.Val1183Ile
NM_001174080.1:c.3550G>A	NP_001167551.1:p.Val1184Ile
NM_023035.2:c.3559G>A	NP_075461.2:p.Val1187Ile
NM_000068.4:c.3559G>A	NP_000059.3:p.Val1187Ile
NM_001127222.2:c.3547G>A MANE Select	NP_001120694.1:p.Val1183Ile
NM_001174080.2:c.3550G>A	NP_001167551.1:p.Val1184Ile
NM_023035.3:c.3559G>A	NP_075461.2:p.Val1187Ile
NM_001127221.2:c.3550G>A	NP_001120693.1:p.Val1184Ile