Canonical Allele Identifier: CA1752429332

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947448T= , CM000669.2:g.150947448T=	GRCh38
NC_000007.13:g.150644536T= , CM000669.1:g.150644536T=	GRCh37
NC_000007.12:g.150275469T=	NCBI36
NG_008916.1:g.35479A= , LRG_288:g.35479A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3865A=
ENST00000262186.10:c.3032A= MANE Select	ENSP00000262186.5:p.Glu1011=
ENST00000330883.9:c.2012A=	ENSP00000328531.4:p.Glu671=
ENST00000262186.9:c.3032A=	ENSP00000262186.5:p.Glu1011=
ENST00000330883.8:c.2012A=	ENSP00000328531.4:p.Glu671=
NM_000238.3:c.3032A= , LRG_288t1:c.3032A=	NP_000229.1:p.Glu1011=
NM_172057.2:c.2012A= , LRG_288t3:c.2012A=	NP_742054.1:p.Glu671=
XM_011516185.1:c.2732A=	XP_011514487.1:p.Glu911=
XM_011516186.1:c.*112A=	XP_011514488.1:n.*112A=
XM_011516185.2:c.2732A=	XP_011514487.1:p.Glu911=
XM_011516186.3:c.*112A=	XP_011514488.1:n.*112A=
XM_017012195.1:c.2882A=	XP_016867684.1:p.Glu961=
XM_017012196.1:c.2855A=	XP_016867685.1:p.Glu952=
NM_000238.4:c.3032A= MANE Select	NP_000229.1:p.Glu1011=
NM_172057.3:c.2012A=	NP_742054.1:p.Glu671=