Canonical Allele Identifier: CA1948315109

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778009G= , CM000673.2:g.2778009G=	GRCh38
NC_000011.9:g.2799239G= , CM000673.1:g.2799239G=	GRCh37
NC_000011.8:g.2755815G=	NCBI36
NG_008935.1:g.338019G= , LRG_287:g.338019G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1766G= MANE Select	NP_000209.2:p.Gly589=
ENST00000155840.12:c.1766G= MANE Select	ENSP00000155840.2:p.Gly589=
NM_000218.2:c.1766G= , LRG_287t1:c.1766G=	NP_000209.2:p.Gly589=
NM_181798.1:c.1385G= , LRG_287t2:c.1385G=	NP_861463.1:p.Gly462=
ENST00000155840.9:c.1766G=	ENSP00000155840.2:p.Gly589=
ENST00000335475.5:c.1385G=	ENSP00000334497.5:p.Gly462=
ENST00000335475.6:c.1385G=	ENSP00000334497.5:p.Gly462=
ENST00000496887.7:c.1409G=	ENSP00000434560.2:p.Gly470=
ENST00000526095.1:n.273G=
ENST00000526095.2:c.170G=	ENSP00000494939.1:p.Gly57=
ENST00000646564.1:c.872G=	ENSP00000495806.1:p.Gly291=
ENST00000646564.2:c.1226G=	ENSP00000495806.2:p.Gly409=