Canonical Allele Identifier: CA1948224789

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583462G= , CM000673.2:g.2583462G=	GRCh38
NC_000011.9:g.2604692G= , CM000673.1:g.2604692G=	GRCh37
NC_000011.8:g.2561268G=	NCBI36
NG_008935.1:g.143472G= , LRG_287:g.143472G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.688G=	ENSP00000434560.2:p.Asp230=
ENST00000646564.2:c.505G=	ENSP00000495806.2:p.Asp169=
ENST00000155840.12:c.949G= MANE Select	ENSP00000155840.2:p.Asp317=
ENST00000335475.6:c.568G=	ENSP00000334497.5:p.Asp190=
ENST00000646564.1:c.151G=	ENSP00000495806.1:p.Asp51=
ENST00000155840.9:c.949G=	ENSP00000155840.2:p.Asp317=
ENST00000335475.5:c.568G=	ENSP00000334497.5:p.Asp190=
NM_000218.2:c.949G= , LRG_287t1:c.949G=	NP_000209.2:p.Asp317=
NM_181798.1:c.568G= , LRG_287t2:c.568G=	NP_861463.1:p.Asp190=
NM_000218.3:c.949G= MANE Select	NP_000209.2:p.Asp317=