Canonical Allele Identifier: CA1948310087

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768907G= , CM000673.2:g.2768907G=	GRCh38
NC_000011.9:g.2790137G= , CM000673.1:g.2790137G=	GRCh37
NC_000011.8:g.2746713G=	NCBI36
NG_008935.1:g.328917G= , LRG_287:g.328917G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1221G=	ENSP00000434560.2:p.Lys407=
ENST00000646564.2:c.1038G=	ENSP00000495806.2:p.Lys346=
ENST00000155840.12:c.1578G= MANE Select	ENSP00000155840.2:p.Lys526=
ENST00000335475.6:c.1197G=	ENSP00000334497.5:p.Lys399=
ENST00000646564.1:c.684G=	ENSP00000495806.1:p.Lys228=
ENST00000155840.9:c.1578G=	ENSP00000155840.2:p.Lys526=
ENST00000335475.5:c.1197G=	ENSP00000334497.5:p.Lys399=
NM_000218.2:c.1578G= , LRG_287t1:c.1578G=	NP_000209.2:p.Lys526=
NM_181798.1:c.1197G= , LRG_287t2:c.1197G=	NP_861463.1:p.Lys399=
NM_000218.3:c.1578G= MANE Select	NP_000209.2:p.Lys526=