Canonical Allele Identifier: CA1752412264

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952793G= , CM000669.2:g.150952793G=	GRCh38
NC_000007.13:g.150649881G= , CM000669.1:g.150649881G=	GRCh37
NC_000007.12:g.150280814G=	NCBI36
NG_008916.1:g.30134C= , LRG_288:g.30134C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.487C=
ENST00000684116.1:n.82C=
ENST00000684241.1:n.2022C=
ENST00000262186.10:c.1189C= MANE Select	ENSP00000262186.5:p.Arg397=
ENST00000330883.9:c.169C=	ENSP00000328531.4:p.Arg57=
ENST00000262186.9:c.1189C=	ENSP00000262186.5:p.Arg397=
ENST00000330883.8:c.169C=	ENSP00000328531.4:p.Arg57=
ENST00000430723.4:c.841C=	ENSP00000387657.4:p.Arg281=
ENST00000461280.1:n.476C=
ENST00000473610.5:n.494C=
ENST00000532957.5:n.1412C=
NM_000238.3:c.1189C= , LRG_288t1:c.1189C=	NP_000229.1:p.Arg397=
NM_001204798.1:c.169C=	NP_001191727.1:p.Arg57=
NM_172056.2:c.1189C= , LRG_288t2:c.1189C=	NP_742053.1:p.Arg397=
NM_172057.2:c.169C= , LRG_288t3:c.169C=	NP_742054.1:p.Arg57=
XM_011516185.1:c.889C=	XP_011514487.1:p.Arg297=
XM_011516186.1:c.1189C=	XP_011514488.1:p.Arg397=
XM_011516185.2:c.889C=	XP_011514487.1:p.Arg297=
XM_011516186.3:c.1189C=	XP_011514488.1:p.Arg397=
XM_017012195.1:c.1039C=	XP_016867684.1:p.Arg347=
XM_017012196.1:c.1012C=	XP_016867685.1:p.Arg338=
NM_000238.4:c.1189C= MANE Select	NP_000229.1:p.Arg397=
NM_001204798.2:c.169C=	NP_001191727.1:p.Arg57=
NM_172057.3:c.169C=	NP_742054.1:p.Arg57=