Canonical Allele Identifier: CA472038419

Gene: KCNQ1

Linked Data

• COSMIC: COSM6243695 ; COSM6243696
• MyVariant Identifiers: chr11:g.2604709G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583479G>T , CM000673.2:g.2583479G>T	GRCh38
NC_000011.9:g.2604709G>T , CM000673.1:g.2604709G>T	GRCh37
NC_000011.8:g.2561285G>T	NCBI36
NG_008935.1:g.143489G>T , LRG_287:g.143489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.705G>T	ENSP00000434560.2:p.Thr235=
ENST00000646564.2:c.522G>T	ENSP00000495806.2:p.Thr174=
ENST00000155840.12:c.966G>T MANE Select	ENSP00000155840.2:p.Thr322=
ENST00000335475.6:c.585G>T	ENSP00000334497.5:p.Thr195=
ENST00000646564.1:c.168G>T	ENSP00000495806.1:p.Thr56=
ENST00000155840.9:c.966G>T	ENSP00000155840.2:p.Thr322=
ENST00000335475.5:c.585G>T	ENSP00000334497.5:p.Thr195=
NM_000218.2:c.966G>T , LRG_287t1:c.966G>T	NP_000209.2:p.Thr322=
NM_181798.1:c.585G>T , LRG_287t2:c.585G>T	NP_861463.1:p.Thr195=
NM_000218.3:c.966G>T MANE Select	NP_000209.2:p.Thr322=