Canonical Allele Identifier: CA1752409310

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951474A= , CM000669.2:g.150951474A=	GRCh38
NC_000007.13:g.150648562A= , CM000669.1:g.150648562A=	GRCh37
NC_000007.12:g.150279495A=	NCBI36
NG_008916.1:g.31453T= , LRG_288:g.31453T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1217T=
ENST00000683359.1:n.43T=
ENST00000684241.1:n.2752T=
ENST00000262186.10:c.1919T= MANE Select	ENSP00000262186.5:p.Phe640=
ENST00000330883.9:c.899T=	ENSP00000328531.4:p.Phe300=
ENST00000262186.9:c.1919T=	ENSP00000262186.5:p.Phe640=
ENST00000330883.8:c.899T=	ENSP00000328531.4:p.Phe300=
ENST00000430723.4:c.1571T=	ENSP00000387657.4:p.Phe524=
ENST00000461280.1:n.1206T=
ENST00000473610.5:n.1224T=
ENST00000532957.5:n.2142T=
NM_000238.3:c.1919T= , LRG_288t1:c.1919T=	NP_000229.1:p.Phe640=
NM_001204798.1:c.899T=	NP_001191727.1:p.Phe300=
NM_172056.2:c.1919T= , LRG_288t2:c.1919T=	NP_742053.1:p.Phe640=
NM_172057.2:c.899T= , LRG_288t3:c.899T=	NP_742054.1:p.Phe300=
XM_011516185.1:c.1619T=	XP_011514487.1:p.Phe540=
XM_011516186.1:c.1919T=	XP_011514488.1:p.Phe640=
XM_011516185.2:c.1619T=	XP_011514487.1:p.Phe540=
XM_011516186.3:c.1919T=	XP_011514488.1:p.Phe640=
XM_017012195.1:c.1769T=	XP_016867684.1:p.Phe590=
XM_017012196.1:c.1742T=	XP_016867685.1:p.Phe581=
NM_000238.4:c.1919T= MANE Select	NP_000229.1:p.Phe640=
NM_001204798.2:c.899T=	NP_001191727.1:p.Phe300=
NM_172057.3:c.899T=	NP_742054.1:p.Phe300=