Canonical Allele Identifier: CA1948224760

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583460G= , CM000673.2:g.2583460G=	GRCh38
NC_000011.9:g.2604690G= , CM000673.1:g.2604690G=	GRCh37
NC_000011.8:g.2561266G=	NCBI36
NG_008935.1:g.143470G= , LRG_287:g.143470G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.686G=	ENSP00000434560.2:p.Gly229=
ENST00000646564.2:c.503G=	ENSP00000495806.2:p.Gly168=
ENST00000155840.12:c.947G= MANE Select	ENSP00000155840.2:p.Gly316=
ENST00000335475.6:c.566G=	ENSP00000334497.5:p.Gly189=
ENST00000646564.1:c.149G=	ENSP00000495806.1:p.Gly50=
ENST00000155840.9:c.947G=	ENSP00000155840.2:p.Gly316=
ENST00000335475.5:c.566G=	ENSP00000334497.5:p.Gly189=
NM_000218.2:c.947G= , LRG_287t1:c.947G=	NP_000209.2:p.Gly316=
NM_181798.1:c.566G= , LRG_287t2:c.566G=	NP_861463.1:p.Gly189=
NM_000218.3:c.947G= MANE Select	NP_000209.2:p.Gly316=