Canonical Allele Identifier: CA472037884

Gene: KCNQ1

Linked Data

• dbSNP Id: rs762267954
• gnomAD v3: 11-2570726-C-A
• gnomAD v4: 11-2570726-C-A
• MyVariant Identifiers: chr11:g.2591956C>A (hg19) ; chr11:g.2570726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570726C>A , CM000673.2:g.2570726C>A	GRCh38
NC_000011.9:g.2591956C>A , CM000673.1:g.2591956C>A	GRCh37
NC_000011.8:g.2548532C>A	NCBI36
NG_008935.1:g.130736C>A , LRG_287:g.130736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.315C>A	ENSP00000434560.2:p.Arg105=
ENST00000646564.2:c.478-12709C>A	ENSP00000495806.2:n.478-12709C>A
ENST00000155840.12:c.576C>A MANE Select	ENSP00000155840.2:p.Arg192=
ENST00000335475.6:c.195C>A	ENSP00000334497.5:p.Arg65=
ENST00000646564.1:c.124-12709C>A	ENSP00000495806.1:n.124-12709C>A
ENST00000155840.9:c.576C>A	ENSP00000155840.2:p.Arg192=
ENST00000335475.5:c.195C>A	ENSP00000334497.5:p.Arg65=
ENST00000496887.6:c.315C>A	ENSP00000434560.1:p.Arg105=
NM_000218.2:c.576C>A , LRG_287t1:c.576C>A	NP_000209.2:p.Arg192=
NM_181798.1:c.195C>A , LRG_287t2:c.195C>A	NP_861463.1:p.Arg65=
NM_000218.3:c.576C>A MANE Select	NP_000209.2:p.Arg192=