Canonical Allele Identifier: CA1752433356

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950197A= , CM000669.2:g.150950197A=	GRCh38
NC_000007.13:g.150647285A= , CM000669.1:g.150647285A=	GRCh37
NC_000007.12:g.150278218A=	NCBI36
NG_008916.1:g.32730T= , LRG_288:g.32730T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1667T=
ENST00000684241.1:n.3202T=
ENST00000262186.10:c.2369T= MANE Select	ENSP00000262186.5:p.Leu790=
ENST00000330883.9:c.1349T=	ENSP00000328531.4:p.Leu450=
ENST00000262186.9:c.2369T=	ENSP00000262186.5:p.Leu790=
ENST00000330883.8:c.1349T=	ENSP00000328531.4:p.Leu450=
ENST00000430723.4:c.2021T=	ENSP00000387657.4:p.Leu674=
ENST00000461280.1:n.1656T=
ENST00000473610.5:n.2001T=
ENST00000532957.5:n.2592T=
NM_000238.3:c.2369T= , LRG_288t1:c.2369T=	NP_000229.1:p.Leu790=
NM_001204798.1:c.1349T=	NP_001191727.1:p.Leu450=
NM_172056.2:c.2369T= , LRG_288t2:c.2369T=	NP_742053.1:p.Leu790=
NM_172057.2:c.1349T= , LRG_288t3:c.1349T=	NP_742054.1:p.Leu450=
XM_011516185.1:c.2069T=	XP_011514487.1:p.Leu690=
XM_011516186.1:c.2369T=	XP_011514488.1:p.Leu790=
XM_011516185.2:c.2069T=	XP_011514487.1:p.Leu690=
XM_011516186.3:c.2369T=	XP_011514488.1:p.Leu790=
XM_017012195.1:c.2219T=	XP_016867684.1:p.Leu740=
XM_017012196.1:c.2192T=	XP_016867685.1:p.Leu731=
NM_000238.4:c.2369T= MANE Select	NP_000229.1:p.Leu790=
NM_001204798.2:c.1349T=	NP_001191727.1:p.Leu450=
NM_172057.3:c.1349T=	NP_742054.1:p.Leu450=