Canonical Allele Identifier: CA1752433649

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950366G= , CM000669.2:g.150950366G=	GRCh38
NC_000007.13:g.150647454G= , CM000669.1:g.150647454G=	GRCh37
NC_000007.12:g.150278387G=	NCBI36
NG_008916.1:g.32561C= , LRG_288:g.32561C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2200C= MANE Select	NP_000229.1:p.Arg734=
ENST00000262186.10:c.2200C= MANE Select	ENSP00000262186.5:p.Arg734=
NM_000238.3:c.2200C= , LRG_288t1:c.2200C=	NP_000229.1:p.Arg734=
NM_001204798.1:c.1180C=	NP_001191727.1:p.Arg394=
NM_001204798.2:c.1180C=	NP_001191727.1:p.Arg394=
NM_172056.2:c.2200C= , LRG_288t2:c.2200C=	NP_742053.1:p.Arg734=
NM_172057.2:c.1180C= , LRG_288t3:c.1180C=	NP_742054.1:p.Arg394=
NM_172057.3:c.1180C=	NP_742054.1:p.Arg394=
ENST00000262186.9:c.2200C=	ENSP00000262186.5:p.Arg734=
ENST00000330883.8:c.1180C=	ENSP00000328531.4:p.Arg394=
ENST00000330883.9:c.1180C=	ENSP00000328531.4:p.Arg394=
ENST00000430723.4:c.1852C=	ENSP00000387657.4:p.Arg618=
ENST00000461280.1:n.1487C=
ENST00000461280.2:n.1498C=
ENST00000473610.5:n.1832C=
ENST00000532957.5:n.2423C=
ENST00000684241.1:n.3033C=
XM_011516185.1:c.1900C=	XP_011514487.1:p.Arg634=
XM_011516185.2:c.1900C=	XP_011514487.1:p.Arg634=
XM_011516186.1:c.2200C=	XP_011514488.1:p.Arg734=
XM_011516186.3:c.2200C=	XP_011514488.1:p.Arg734=
XM_017012195.1:c.2050C=	XP_016867684.1:p.Arg684=
XM_017012196.1:c.2023C=	XP_016867685.1:p.Arg675=