Canonical Allele Identifier: CA1948239628

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570671G= , CM000673.2:g.2570671G=	GRCh38
NC_000011.9:g.2591901G= , CM000673.1:g.2591901G=	GRCh37
NC_000011.8:g.2548477G=	NCBI36
NG_008935.1:g.130681G= , LRG_287:g.130681G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.260G=	ENSP00000434560.2:p.Arg87=
ENST00000646564.2:c.478-12764G=	ENSP00000495806.2:n.478-12764G=
ENST00000155840.12:c.521G= MANE Select	ENSP00000155840.2:p.Arg174=
ENST00000335475.6:c.140G=	ENSP00000334497.5:p.Arg47=
ENST00000646564.1:c.124-12764G=	ENSP00000495806.1:n.124-12764G=
ENST00000155840.9:c.521G=	ENSP00000155840.2:p.Arg174=
ENST00000335475.5:c.140G=	ENSP00000334497.5:p.Arg47=
ENST00000496887.6:c.260G=	ENSP00000434560.1:p.Arg87=
NM_000218.2:c.521G= , LRG_287t1:c.521G=	NP_000209.2:p.Arg174=
NM_181798.1:c.140G= , LRG_287t2:c.140G=	NP_861463.1:p.Arg47=
NM_000218.3:c.521G= MANE Select	NP_000209.2:p.Arg174=