Canonical Allele Identifier: CA1752412313

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952827C= , CM000669.2:g.150952827C=	GRCh38
NC_000007.13:g.150649915C= , CM000669.1:g.150649915C=	GRCh37
NC_000007.12:g.150280848C=	NCBI36
NG_008916.1:g.30100G= , LRG_288:g.30100G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.453G=
ENST00000684116.1:n.48G=
ENST00000684241.1:n.1988G=
ENST00000262186.10:c.1155G= MANE Select	ENSP00000262186.5:p.Leu385=
ENST00000330883.9:c.135G=	ENSP00000328531.4:p.Leu45=
ENST00000262186.9:c.1155G=	ENSP00000262186.5:p.Leu385=
ENST00000330883.8:c.135G=	ENSP00000328531.4:p.Leu45=
ENST00000430723.4:c.807G=	ENSP00000387657.4:p.Leu269=
ENST00000461280.1:n.442G=
ENST00000473610.5:n.460G=
ENST00000532957.5:n.1378G=
NM_000238.3:c.1155G= , LRG_288t1:c.1155G=	NP_000229.1:p.Leu385=
NM_001204798.1:c.135G=	NP_001191727.1:p.Leu45=
NM_172056.2:c.1155G= , LRG_288t2:c.1155G=	NP_742053.1:p.Leu385=
NM_172057.2:c.135G= , LRG_288t3:c.135G=	NP_742054.1:p.Leu45=
XM_011516185.1:c.855G=	XP_011514487.1:p.Leu285=
XM_011516186.1:c.1155G=	XP_011514488.1:p.Leu385=
XM_011516185.2:c.855G=	XP_011514487.1:p.Leu285=
XM_011516186.3:c.1155G=	XP_011514488.1:p.Leu385=
XM_017012195.1:c.1005G=	XP_016867684.1:p.Leu335=
XM_017012196.1:c.978G=	XP_016867685.1:p.Leu326=
NM_000238.4:c.1155G= MANE Select	NP_000229.1:p.Leu385=
NM_001204798.2:c.135G=	NP_001191727.1:p.Leu45=
NM_172057.3:c.135G=	NP_742054.1:p.Leu45=