Canonical Allele Identifier: CA1752410156

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951615A= , CM000669.2:g.150951615A=	GRCh38
NC_000007.13:g.150648703A= , CM000669.1:g.150648703A=	GRCh37
NC_000007.12:g.150279636A=	NCBI36
NG_008916.1:g.31312T= , LRG_288:g.31312T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1778T= MANE Select	NP_000229.1:p.Ile593=
ENST00000262186.10:c.1778T= MANE Select	ENSP00000262186.5:p.Ile593=
NM_000238.3:c.1778T= , LRG_288t1:c.1778T=	NP_000229.1:p.Ile593=
NM_001204798.1:c.758T=	NP_001191727.1:p.Ile253=
NM_001204798.2:c.758T=	NP_001191727.1:p.Ile253=
NM_172056.2:c.1778T= , LRG_288t2:c.1778T=	NP_742053.1:p.Ile593=
NM_172057.2:c.758T= , LRG_288t3:c.758T=	NP_742054.1:p.Ile253=
NM_172057.3:c.758T=	NP_742054.1:p.Ile253=
ENST00000262186.9:c.1778T=	ENSP00000262186.5:p.Ile593=
ENST00000330883.8:c.758T=	ENSP00000328531.4:p.Ile253=
ENST00000330883.9:c.758T=	ENSP00000328531.4:p.Ile253=
ENST00000430723.4:c.1430T=	ENSP00000387657.4:p.Ile477=
ENST00000461280.1:n.1065T=
ENST00000461280.2:n.1076T=
ENST00000473610.5:n.1083T=
ENST00000532957.5:n.2001T=
ENST00000684241.1:n.2611T=
XM_011516185.1:c.1478T=	XP_011514487.1:p.Ile493=
XM_011516185.2:c.1478T=	XP_011514487.1:p.Ile493=
XM_011516186.1:c.1778T=	XP_011514488.1:p.Ile593=
XM_011516186.3:c.1778T=	XP_011514488.1:p.Ile593=
XM_017012195.1:c.1628T=	XP_016867684.1:p.Ile543=
XM_017012196.1:c.1601T=	XP_016867685.1:p.Ile534=