Canonical Allele Identifier: CA10609292

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294712
• ClinVar RCV Id: RCV000396474 ; RCV001485565 ; RCV003977832 ; RCV003995797
• dbSNP Id: rs752911523
• gnomAD v2: 1-201013477-C-T
• gnomAD v3: 1-201044349-C-T
• gnomAD v4: 1-201044349-C-T
• MyVariant Identifiers: chr1:g.201013477C>T (hg19) ; chr1:g.201044349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044349C>T , CM000663.2:g.201044349C>T	GRCh38
NC_000001.10:g.201013477C>T , CM000663.1:g.201013477C>T	GRCh37
NC_000001.9:g.199280100C>T	NCBI36
NG_009816.1:g.73218G>A
NG_009816.2:g.73218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4776G>A MANE Select	ENSP00000355192.3:p.Ala1592=
ENST00000679417.1:c.*3939G>A	ENSP00000506706.1:n.*3939G>A
ENST00000680051.1:n.1902G>A
ENST00000680059.1:c.*2294G>A	ENSP00000504944.1:n.*2294G>A
ENST00000681078.1:c.*551G>A	ENSP00000506645.1:n.*551G>A
ENST00000681190.1:c.*958G>A	ENSP00000506428.1:n.*958G>A
ENST00000681874.1:c.4716G>A	ENSP00000505162.1:p.Ala1572=
ENST00000362061.3:c.4776G>A	ENSP00000355192.3:p.Ala1592=
ENST00000367338.7:c.4719G>A	ENSP00000356307.3:p.Ala1573=
NM_000069.2:c.4776G>A	NP_000060.2:p.Ala1592=
XM_005245478.2:c.4719G>A	XP_005245535.1:p.Ala1573=
XM_005245478.3:c.4719G>A	XP_005245535.1:p.Ala1573=
NM_000069.3:c.4776G>A MANE Select	NP_000060.2:p.Ala1592=