Canonical Allele Identifier: CA1948228780

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585213G= , CM000673.2:g.2585213G=	GRCh38
NC_000011.9:g.2606443G= , CM000673.1:g.2606443G=	GRCh37
NC_000011.8:g.2563019G=	NCBI36
NG_008935.1:g.145223G= , LRG_287:g.145223G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1034G= MANE Select	NP_000209.2:p.Gly345=
ENST00000155840.12:c.1034G= MANE Select	ENSP00000155840.2:p.Gly345=
NM_000218.2:c.1034G= , LRG_287t1:c.1034G=	NP_000209.2:p.Gly345=
NM_181798.1:c.653G= , LRG_287t2:c.653G=	NP_861463.1:p.Gly218=
ENST00000155840.9:c.1034G=	ENSP00000155840.2:p.Gly345=
ENST00000335475.5:c.653G=	ENSP00000334497.5:p.Gly218=
ENST00000335475.6:c.653G=	ENSP00000334497.5:p.Gly218=
ENST00000496887.7:c.771+1668G=	ENSP00000434560.2:n.771+1668G=
ENST00000646564.1:c.234+1668G=	ENSP00000495806.1:n.234+1668G=
ENST00000646564.2:c.588+1668G=	ENSP00000495806.2:n.588+1668G=