Canonical Allele Identifier: CA1948224809

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583466A= , CM000673.2:g.2583466A=	GRCh38
NC_000011.9:g.2604696A= , CM000673.1:g.2604696A=	GRCh37
NC_000011.8:g.2561272A=	NCBI36
NG_008935.1:g.143476A= , LRG_287:g.143476A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.692A=	ENSP00000434560.2:p.Lys231=
ENST00000646564.2:c.509A=	ENSP00000495806.2:p.Lys170=
ENST00000155840.12:c.953A= MANE Select	ENSP00000155840.2:p.Lys318=
ENST00000335475.6:c.572A=	ENSP00000334497.5:p.Lys191=
ENST00000646564.1:c.155A=	ENSP00000495806.1:p.Lys52=
ENST00000155840.9:c.953A=	ENSP00000155840.2:p.Lys318=
ENST00000335475.5:c.572A=	ENSP00000334497.5:p.Lys191=
NM_000218.2:c.953A= , LRG_287t1:c.953A=	NP_000209.2:p.Lys318=
NM_181798.1:c.572A= , LRG_287t2:c.572A=	NP_861463.1:p.Lys191=
NM_000218.3:c.953A= MANE Select	NP_000209.2:p.Lys318=