Canonical Allele Identifier: CA1752434201

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950983G= , CM000669.2:g.150950983G=	GRCh38
NC_000007.13:g.150648071G= , CM000669.1:g.150648071G=	GRCh37
NC_000007.12:g.150279004G=	NCBI36
NG_008916.1:g.31944C= , LRG_288:g.31944C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2083C= MANE Select	NP_000229.1:p.Gln695=
ENST00000262186.10:c.2083C= MANE Select	ENSP00000262186.5:p.Gln695=
NM_000238.3:c.2083C= , LRG_288t1:c.2083C=	NP_000229.1:p.Gln695=
NM_001204798.1:c.1063C=	NP_001191727.1:p.Gln355=
NM_001204798.2:c.1063C=	NP_001191727.1:p.Gln355=
NM_172056.2:c.2083C= , LRG_288t2:c.2083C=	NP_742053.1:p.Gln695=
NM_172057.2:c.1063C= , LRG_288t3:c.1063C=	NP_742054.1:p.Gln355=
NM_172057.3:c.1063C=	NP_742054.1:p.Gln355=
ENST00000262186.9:c.2083C=	ENSP00000262186.5:p.Gln695=
ENST00000330883.8:c.1063C=	ENSP00000328531.4:p.Gln355=
ENST00000330883.9:c.1063C=	ENSP00000328531.4:p.Gln355=
ENST00000430723.4:c.1735C=	ENSP00000387657.4:p.Gln579=
ENST00000461280.1:n.1370C=
ENST00000461280.2:n.1381C=
ENST00000473610.5:n.1715C=
ENST00000532957.5:n.2306C=
ENST00000683359.1:n.207C=
ENST00000684241.1:n.2916C=
XM_011516185.1:c.1783C=	XP_011514487.1:p.Gln595=
XM_011516185.2:c.1783C=	XP_011514487.1:p.Gln595=
XM_011516186.1:c.2083C=	XP_011514488.1:p.Gln695=
XM_011516186.3:c.2083C=	XP_011514488.1:p.Gln695=
XM_017012195.1:c.1933C=	XP_016867684.1:p.Gln645=
XM_017012196.1:c.1906C=	XP_016867685.1:p.Gln636=