Canonical Allele Identifier: CA1948224700

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583454G= , CM000673.2:g.2583454G=	GRCh38
NC_000011.9:g.2604684G= , CM000673.1:g.2604684G=	GRCh37
NC_000011.8:g.2561260G=	NCBI36
NG_008935.1:g.143464G= , LRG_287:g.143464G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.680G=	ENSP00000434560.2:p.Gly227=
ENST00000646564.2:c.497G=	ENSP00000495806.2:p.Gly166=
ENST00000155840.12:c.941G= MANE Select	ENSP00000155840.2:p.Gly314=
ENST00000335475.6:c.560G=	ENSP00000334497.5:p.Gly187=
ENST00000646564.1:c.143G=	ENSP00000495806.1:p.Gly48=
ENST00000155840.9:c.941G=	ENSP00000155840.2:p.Gly314=
ENST00000335475.5:c.560G=	ENSP00000334497.5:p.Gly187=
NM_000218.2:c.941G= , LRG_287t1:c.941G=	NP_000209.2:p.Gly314=
NM_181798.1:c.560G= , LRG_287t2:c.560G=	NP_861463.1:p.Gly187=
NM_000218.3:c.941G= MANE Select	NP_000209.2:p.Gly314=