Canonical Allele Identifier: CA082848

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 514901
• ClinVar RCV Id: RCV000605394 ; RCV002528602 ; RCV002491282 ; RCV003446253 ; RCV003446250 ; RCV003446251 ; RCV003446252
• dbSNP Id: rs374572342
• ExAC: 1:201022415 C / T
• gnomAD v2: 1-201022415-C-T
• gnomAD v3: 1-201053287-C-T
• gnomAD v4: 1-201053287-C-T
• MyVariant Identifiers: chr1:g.201022415C>T (hg19) ; chr1:g.201053287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053287C>T , CM000663.2:g.201053287C>T	GRCh38
NC_000001.10:g.201022415C>T , CM000663.1:g.201022415C>T	GRCh37
NC_000001.9:g.199289038C>T	NCBI36
NG_009816.1:g.64280G>A
NG_009816.2:g.64280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3796-13G>A MANE Select	ENSP00000355192.3:n.3796-13G>A
ENST00000679417.1:c.*2959-13G>A	ENSP00000506706.1:n.*2959-13G>A
ENST00000680051.1:n.922-13G>A
ENST00000680059.1:c.*1314-13G>A	ENSP00000504944.1:n.*1314-13G>A
ENST00000681078.1:c.3796-13G>A	ENSP00000506645.1:n.3796-13G>A
ENST00000681190.1:c.3796-13G>A	ENSP00000506428.1:n.3796-13G>A
ENST00000681874.1:c.3736-13G>A	ENSP00000505162.1:n.3736-13G>A
ENST00000362061.3:c.3796-13G>A	ENSP00000355192.3:n.3796-13G>A
ENST00000367338.7:c.3739-13G>A	ENSP00000356307.3:n.3739-13G>A
NM_000069.2:c.3796-13G>A	NP_000060.2:n.3796-13G>A
XM_005245478.2:c.3739-13G>A	XP_005245535.1:n.3739-13G>A
XM_005245478.3:c.3739-13G>A	XP_005245535.1:n.3739-13G>A
NM_000069.3:c.3796-13G>A MANE Select	NP_000060.2:n.3796-13G>A