Canonical Allele Identifier: CA1752414961

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955638G= , CM000669.2:g.150955638G=	GRCh38
NC_000007.13:g.150652726G= , CM000669.1:g.150652726G=	GRCh37
NC_000007.12:g.150283659G=	NCBI36
NG_008916.1:g.27289C= , LRG_288:g.27289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.184C=
ENST00000684241.1:n.1961+1653C=
ENST00000262186.10:c.1128+1653C= MANE Select	ENSP00000262186.5:n.1128+1653C=
ENST00000330883.9:c.-135C=	ENSP00000328531.4:n.-135C=
ENST00000262186.9:c.1128+1653C=	ENSP00000262186.5:n.1128+1653C=
ENST00000330883.8:c.-135C=	ENSP00000328531.4:n.-135C=
ENST00000430723.4:c.780+1653C=	ENSP00000387657.4:n.780+1653C=
ENST00000461280.1:n.173C=
ENST00000473610.5:n.191C=
ENST00000532957.5:n.1351+1653C=
NM_000238.3:c.1128+1653C= , LRG_288t1:c.1128+1653C=	NP_000229.1:n.1128+1653C=
NM_001204798.1:c.-135C=	NP_001191727.1:n.-135C=
NM_172056.2:c.1128+1653C= , LRG_288t2:c.1128+1653C=	NP_742053.1:n.1128+1653C=
NM_172057.2:c.-135C= , LRG_288t3:c.-135C=	NP_742054.1:n.-135C=
XM_011516185.1:c.828+1653C=	XP_011514487.1:n.828+1653C=
XM_011516186.1:c.1128+1653C=	XP_011514488.1:n.1128+1653C=
XM_011516185.2:c.828+1653C=	XP_011514487.1:n.828+1653C=
XM_011516186.3:c.1128+1653C=	XP_011514488.1:n.1128+1653C=
XM_017012195.1:c.978+1653C=	XP_016867684.1:n.978+1653C=
XM_017012196.1:c.951+1653C=	XP_016867685.1:n.951+1653C=
NM_000238.4:c.1128+1653C= MANE Select	NP_000229.1:n.1128+1653C=
NM_001204798.2:c.-135C=	NP_001191727.1:n.-135C=
NM_172057.3:c.-135C=	NP_742054.1:n.-135C=