Canonical Allele Identifier: CA1948224876

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583477A= , CM000673.2:g.2583477A=	GRCh38
NC_000011.9:g.2604707A= , CM000673.1:g.2604707A=	GRCh37
NC_000011.8:g.2561283A=	NCBI36
NG_008935.1:g.143487A= , LRG_287:g.143487A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.703A=	ENSP00000434560.2:p.Thr235=
ENST00000646564.2:c.520A=	ENSP00000495806.2:p.Thr174=
ENST00000155840.12:c.964A= MANE Select	ENSP00000155840.2:p.Thr322=
ENST00000335475.6:c.583A=	ENSP00000334497.5:p.Thr195=
ENST00000646564.1:c.166A=	ENSP00000495806.1:p.Thr56=
ENST00000155840.9:c.964A=	ENSP00000155840.2:p.Thr322=
ENST00000335475.5:c.583A=	ENSP00000334497.5:p.Thr195=
NM_000218.2:c.964A= , LRG_287t1:c.964A=	NP_000209.2:p.Thr322=
NM_181798.1:c.583A= , LRG_287t2:c.583A=	NP_861463.1:p.Thr195=
NM_000218.3:c.964A= MANE Select	NP_000209.2:p.Thr322=