Canonical Allele Identifier: CA1948225206

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583545G= , CM000673.2:g.2583545G=	GRCh38
NC_000011.9:g.2604775G= , CM000673.1:g.2604775G=	GRCh37
NC_000011.8:g.2561351G=	NCBI36
NG_008935.1:g.143555G= , LRG_287:g.143555G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1032G= MANE Select	NP_000209.2:p.Ala344=
ENST00000155840.12:c.1032G= MANE Select	ENSP00000155840.2:p.Ala344=
NM_000218.2:c.1032G= , LRG_287t1:c.1032G=	NP_000209.2:p.Ala344=
NM_181798.1:c.651G= , LRG_287t2:c.651G=	NP_861463.1:p.Ala217=
ENST00000155840.9:c.1032G=	ENSP00000155840.2:p.Ala344=
ENST00000335475.5:c.651G=	ENSP00000334497.5:p.Ala217=
ENST00000335475.6:c.651G=	ENSP00000334497.5:p.Ala217=
ENST00000496887.7:c.771G=	ENSP00000434560.2:p.Ala257=
ENST00000646564.1:c.234G=	ENSP00000495806.1:p.Ala78=
ENST00000646564.2:c.588G=	ENSP00000495806.2:p.Ala196=