Canonical Allele Identifier: CA1752434263

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951017G= , CM000669.2:g.150951017G=	GRCh38
NC_000007.13:g.150648105G= , CM000669.1:g.150648105G=	GRCh37
NC_000007.12:g.150279038G=	NCBI36
NG_008916.1:g.31910C= , LRG_288:g.31910C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1347C=
ENST00000683359.1:n.173C=
ENST00000684241.1:n.2882C=
ENST00000262186.10:c.2049C= MANE Select	ENSP00000262186.5:p.Phe683=
ENST00000330883.9:c.1029C=	ENSP00000328531.4:p.Phe343=
ENST00000262186.9:c.2049C=	ENSP00000262186.5:p.Phe683=
ENST00000330883.8:c.1029C=	ENSP00000328531.4:p.Phe343=
ENST00000430723.4:c.1701C=	ENSP00000387657.4:p.Phe567=
ENST00000461280.1:n.1336C=
ENST00000473610.5:n.1681C=
ENST00000532957.5:n.2272C=
NM_000238.3:c.2049C= , LRG_288t1:c.2049C=	NP_000229.1:p.Phe683=
NM_001204798.1:c.1029C=	NP_001191727.1:p.Phe343=
NM_172056.2:c.2049C= , LRG_288t2:c.2049C=	NP_742053.1:p.Phe683=
NM_172057.2:c.1029C= , LRG_288t3:c.1029C=	NP_742054.1:p.Phe343=
XM_011516185.1:c.1749C=	XP_011514487.1:p.Phe583=
XM_011516186.1:c.2049C=	XP_011514488.1:p.Phe683=
XM_011516185.2:c.1749C=	XP_011514487.1:p.Phe583=
XM_011516186.3:c.2049C=	XP_011514488.1:p.Phe683=
XM_017012195.1:c.1899C=	XP_016867684.1:p.Phe633=
XM_017012196.1:c.1872C=	XP_016867685.1:p.Phe624=
NM_000238.4:c.2049C= MANE Select	NP_000229.1:p.Phe683=
NM_001204798.2:c.1029C=	NP_001191727.1:p.Phe343=
NM_172057.3:c.1029C=	NP_742054.1:p.Phe343=