Canonical Allele Identifier: CA1752412278

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952802G= , CM000669.2:g.150952802G=	GRCh38
NC_000007.13:g.150649890G= , CM000669.1:g.150649890G=	GRCh37
NC_000007.12:g.150280823G=	NCBI36
NG_008916.1:g.30125C= , LRG_288:g.30125C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.478C=
ENST00000684116.1:n.73C=
ENST00000684241.1:n.2013C=
ENST00000262186.10:c.1180C= MANE Select	ENSP00000262186.5:p.Arg394=
ENST00000330883.9:c.160C=	ENSP00000328531.4:p.Arg54=
ENST00000262186.9:c.1180C=	ENSP00000262186.5:p.Arg394=
ENST00000330883.8:c.160C=	ENSP00000328531.4:p.Arg54=
ENST00000430723.4:c.832C=	ENSP00000387657.4:p.Arg278=
ENST00000461280.1:n.467C=
ENST00000473610.5:n.485C=
ENST00000532957.5:n.1403C=
NM_000238.3:c.1180C= , LRG_288t1:c.1180C=	NP_000229.1:p.Arg394=
NM_001204798.1:c.160C=	NP_001191727.1:p.Arg54=
NM_172056.2:c.1180C= , LRG_288t2:c.1180C=	NP_742053.1:p.Arg394=
NM_172057.2:c.160C= , LRG_288t3:c.160C=	NP_742054.1:p.Arg54=
XM_011516185.1:c.880C=	XP_011514487.1:p.Arg294=
XM_011516186.1:c.1180C=	XP_011514488.1:p.Arg394=
XM_011516185.2:c.880C=	XP_011514487.1:p.Arg294=
XM_011516186.3:c.1180C=	XP_011514488.1:p.Arg394=
XM_017012195.1:c.1030C=	XP_016867684.1:p.Arg344=
XM_017012196.1:c.1003C=	XP_016867685.1:p.Arg335=
NM_000238.4:c.1180C= MANE Select	NP_000229.1:p.Arg394=
NM_001204798.2:c.160C=	NP_001191727.1:p.Arg54=
NM_172057.3:c.160C=	NP_742054.1:p.Arg54=