Canonical Allele Identifier: CA1948233280

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587620G= , CM000673.2:g.2587620G=	GRCh38
NC_000011.9:g.2608850G= , CM000673.1:g.2608850G=	GRCh37
NC_000011.8:g.2565426G=	NCBI36
NG_008935.1:g.147630G= , LRG_287:g.147630G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.822G=	ENSP00000434560.2:p.Lys274=
ENST00000646564.2:c.639G=	ENSP00000495806.2:p.Lys213=
ENST00000155840.12:c.1179G= MANE Select	ENSP00000155840.2:p.Lys393=
ENST00000335475.6:c.798G=	ENSP00000334497.5:p.Lys266=
ENST00000646564.1:c.285G=	ENSP00000495806.1:p.Lys95=
ENST00000155840.9:c.1179G=	ENSP00000155840.2:p.Lys393=
ENST00000335475.5:c.798G=	ENSP00000334497.5:p.Lys266=
NM_000218.2:c.1179G= , LRG_287t1:c.1179G=	NP_000209.2:p.Lys393=
NM_181798.1:c.798G= , LRG_287t2:c.798G=	NP_861463.1:p.Lys266=
NM_000218.3:c.1179G= MANE Select	NP_000209.2:p.Lys393=