Canonical Allele Identifier: CA1011174600

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1660915900
• gnomAD v3: 1-201058205-A-AT
• gnomAD v4: 1-201058205-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058207dup , CM000663.2:g.201058207dup	GRCh38
NC_000001.10:g.201027335dup , CM000663.1:g.201027335dup	GRCh37
NC_000001.9:g.199293958dup	NCBI36
NG_009816.1:g.59361dup
NG_009816.2:g.59361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3609+202dup MANE Select	ENSP00000355192.3:n.3609+202dup
ENST00000679417.1:c.*2772+202dup	ENSP00000506706.1:n.*2772+202dup
ENST00000680051.1:n.735+202dup
ENST00000680059.1:c.*1127+202dup	ENSP00000504944.1:n.*1127+202dup
ENST00000681078.1:c.3609+202dup	ENSP00000506645.1:n.3609+202dup
ENST00000681190.1:c.3609+202dup	ENSP00000506428.1:n.3609+202dup
ENST00000681874.1:c.3549+202dup	ENSP00000505162.1:n.3549+202dup
ENST00000362061.3:c.3609+202dup	ENSP00000355192.3:n.3609+202dup
ENST00000367338.7:c.3609+202dup	ENSP00000356307.3:n.3609+202dup
NM_000069.2:c.3609+202dup	NP_000060.2:n.3609+202dup
XM_005245478.2:c.3609+202dup	XP_005245535.1:n.3609+202dup
XM_005245478.3:c.3609+202dup	XP_005245535.1:n.3609+202dup
NM_000069.3:c.3609+202dup MANE Select	NP_000060.2:n.3609+202dup