Canonical Allele Identifier: CA1752411846

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952588A= , CM000669.2:g.150952588A=	GRCh38
NC_000007.13:g.150649676A= , CM000669.1:g.150649676A=	GRCh37
NC_000007.12:g.150280609A=	NCBI36
NG_008916.1:g.30339T= , LRG_288:g.30339T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.692T=
ENST00000684116.1:n.287T=
ENST00000684241.1:n.2227T=
ENST00000262186.10:c.1394T= MANE Select	ENSP00000262186.5:p.Val465=
ENST00000330883.9:c.374T=	ENSP00000328531.4:p.Val125=
ENST00000262186.9:c.1394T=	ENSP00000262186.5:p.Val465=
ENST00000330883.8:c.374T=	ENSP00000328531.4:p.Val125=
ENST00000430723.4:c.1046T=	ENSP00000387657.4:p.Val349=
ENST00000461280.1:n.681T=
ENST00000473610.5:n.699T=
ENST00000532957.5:n.1617T=
NM_000238.3:c.1394T= , LRG_288t1:c.1394T=	NP_000229.1:p.Val465=
NM_001204798.1:c.374T=	NP_001191727.1:p.Val125=
NM_172056.2:c.1394T= , LRG_288t2:c.1394T=	NP_742053.1:p.Val465=
NM_172057.2:c.374T= , LRG_288t3:c.374T=	NP_742054.1:p.Val125=
XM_011516185.1:c.1094T=	XP_011514487.1:p.Val365=
XM_011516186.1:c.1394T=	XP_011514488.1:p.Val465=
XM_011516185.2:c.1094T=	XP_011514487.1:p.Val365=
XM_011516186.3:c.1394T=	XP_011514488.1:p.Val465=
XM_017012195.1:c.1244T=	XP_016867684.1:p.Val415=
XM_017012196.1:c.1217T=	XP_016867685.1:p.Val406=
NM_000238.4:c.1394T= MANE Select	NP_000229.1:p.Val465=
NM_001204798.2:c.374T=	NP_001191727.1:p.Val125=
NM_172057.3:c.374T=	NP_742054.1:p.Val125=