Canonical Allele Identifier: CA1948224817

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583467G= , CM000673.2:g.2583467G=	GRCh38
NC_000011.9:g.2604697G= , CM000673.1:g.2604697G=	GRCh37
NC_000011.8:g.2561273G=	NCBI36
NG_008935.1:g.143477G= , LRG_287:g.143477G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.693G=	ENSP00000434560.2:p.Lys231=
ENST00000646564.2:c.510G=	ENSP00000495806.2:p.Lys170=
ENST00000155840.12:c.954G= MANE Select	ENSP00000155840.2:p.Lys318=
ENST00000335475.6:c.573G=	ENSP00000334497.5:p.Lys191=
ENST00000646564.1:c.156G=	ENSP00000495806.1:p.Lys52=
ENST00000155840.9:c.954G=	ENSP00000155840.2:p.Lys318=
ENST00000335475.5:c.573G=	ENSP00000334497.5:p.Lys191=
NM_000218.2:c.954G= , LRG_287t1:c.954G=	NP_000209.2:p.Lys318=
NM_181798.1:c.573G= , LRG_287t2:c.573G=	NP_861463.1:p.Lys191=
NM_000218.3:c.954G= MANE Select	NP_000209.2:p.Lys318=