Canonical Allele Identifier: CA1752433677

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950392T= , CM000669.2:g.150950392T=	GRCh38
NC_000007.13:g.150647480T= , CM000669.1:g.150647480T=	GRCh37
NC_000007.12:g.150278413T=	NCBI36
NG_008916.1:g.32535A= , LRG_288:g.32535A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1472A=
ENST00000684241.1:n.3007A=
ENST00000262186.10:c.2174A= MANE Select	ENSP00000262186.5:p.Gln725=
ENST00000330883.9:c.1154A=	ENSP00000328531.4:p.Gln385=
ENST00000262186.9:c.2174A=	ENSP00000262186.5:p.Gln725=
ENST00000330883.8:c.1154A=	ENSP00000328531.4:p.Gln385=
ENST00000430723.4:c.1826A=	ENSP00000387657.4:p.Gln609=
ENST00000461280.1:n.1461A=
ENST00000473610.5:n.1806A=
ENST00000532957.5:n.2397A=
NM_000238.3:c.2174A= , LRG_288t1:c.2174A=	NP_000229.1:p.Gln725=
NM_001204798.1:c.1154A=	NP_001191727.1:p.Gln385=
NM_172056.2:c.2174A= , LRG_288t2:c.2174A=	NP_742053.1:p.Gln725=
NM_172057.2:c.1154A= , LRG_288t3:c.1154A=	NP_742054.1:p.Gln385=
XM_011516185.1:c.1874A=	XP_011514487.1:p.Gln625=
XM_011516186.1:c.2174A=	XP_011514488.1:p.Gln725=
XM_011516185.2:c.1874A=	XP_011514487.1:p.Gln625=
XM_011516186.3:c.2174A=	XP_011514488.1:p.Gln725=
XM_017012195.1:c.2024A=	XP_016867684.1:p.Gln675=
XM_017012196.1:c.1997A=	XP_016867685.1:p.Gln666=
NM_000238.4:c.2174A= MANE Select	NP_000229.1:p.Gln725=
NM_001204798.2:c.1154A=	NP_001191727.1:p.Gln385=
NM_172057.3:c.1154A=	NP_742054.1:p.Gln385=