Canonical Allele Identifier: CA472459450

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790110T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768880T>A , CM000673.2:g.2768880T>A	GRCh38
NC_000011.9:g.2790110T>A , CM000673.1:g.2790110T>A	GRCh37
NC_000011.8:g.2746686T>A	NCBI36
NG_008935.1:g.328890T>A , LRG_287:g.328890T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1194T>A	ENSP00000434560.2:p.Ile398=
ENST00000646564.2:c.1011T>A	ENSP00000495806.2:p.Ile337=
ENST00000155840.12:c.1551T>A MANE Select	ENSP00000155840.2:p.Ile517=
ENST00000335475.6:c.1170T>A	ENSP00000334497.5:p.Ile390=
ENST00000646564.1:c.657T>A	ENSP00000495806.1:p.Ile219=
ENST00000155840.9:c.1551T>A	ENSP00000155840.2:p.Ile517=
ENST00000335475.5:c.1170T>A	ENSP00000334497.5:p.Ile390=
NM_000218.2:c.1551T>A , LRG_287t1:c.1551T>A	NP_000209.2:p.Ile517=
NM_181798.1:c.1170T>A , LRG_287t2:c.1170T>A	NP_861463.1:p.Ile390=
NM_000218.3:c.1551T>A MANE Select	NP_000209.2:p.Ile517=