Canonical Allele Identifier: CA1948228898

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585241G= , CM000673.2:g.2585241G=	GRCh38
NC_000011.9:g.2606471G= , CM000673.1:g.2606471G=	GRCh37
NC_000011.8:g.2563047G=	NCBI36
NG_008935.1:g.145251G= , LRG_287:g.145251G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1696G=	ENSP00000434560.2:n.771+1696G=
ENST00000646564.2:c.588+1696G=	ENSP00000495806.2:n.588+1696G=
ENST00000155840.12:c.1062G= MANE Select	ENSP00000155840.2:p.Lys354=
ENST00000335475.6:c.681G=	ENSP00000334497.5:p.Lys227=
ENST00000646564.1:c.234+1696G=	ENSP00000495806.1:n.234+1696G=
ENST00000155840.9:c.1062G=	ENSP00000155840.2:p.Lys354=
ENST00000335475.5:c.681G=	ENSP00000334497.5:p.Lys227=
NM_000218.2:c.1062G= , LRG_287t1:c.1062G=	NP_000209.2:p.Lys354=
NM_181798.1:c.681G= , LRG_287t2:c.681G=	NP_861463.1:p.Lys227=
NM_000218.3:c.1062G= MANE Select	NP_000209.2:p.Lys354=