Canonical Allele Identifier: CA472459472

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790131G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768901G>A , CM000673.2:g.2768901G>A	GRCh38
NC_000011.9:g.2790131G>A , CM000673.1:g.2790131G>A	GRCh37
NC_000011.8:g.2746707G>A	NCBI36
NG_008935.1:g.328911G>A , LRG_287:g.328911G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1215G>A	ENSP00000434560.2:p.Val405=
ENST00000646564.2:c.1032G>A	ENSP00000495806.2:p.Val344=
ENST00000155840.12:c.1572G>A MANE Select	ENSP00000155840.2:p.Val524=
ENST00000335475.6:c.1191G>A	ENSP00000334497.5:p.Val397=
ENST00000646564.1:c.678G>A	ENSP00000495806.1:p.Val226=
ENST00000155840.9:c.1572G>A	ENSP00000155840.2:p.Val524=
ENST00000335475.5:c.1191G>A	ENSP00000334497.5:p.Val397=
NM_000218.2:c.1572G>A , LRG_287t1:c.1572G>A	NP_000209.2:p.Val524=
NM_181798.1:c.1191G>A , LRG_287t2:c.1191G>A	NP_861463.1:p.Val397=
NM_000218.3:c.1572G>A MANE Select	NP_000209.2:p.Val524=