Canonical Allele Identifier: CA1752434919

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951448A= , CM000669.2:g.150951448A=	GRCh38
NC_000007.13:g.150648536A= , CM000669.1:g.150648536A=	GRCh37
NC_000007.12:g.150279469A=	NCBI36
NG_008916.1:g.31479T= , LRG_288:g.31479T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1243T=
ENST00000683359.1:n.69T=
ENST00000684241.1:n.2778T=
ENST00000262186.10:c.1945T= MANE Select	ENSP00000262186.5:p.Ser649=
ENST00000330883.9:c.925T=	ENSP00000328531.4:p.Ser309=
ENST00000262186.9:c.1945T=	ENSP00000262186.5:p.Ser649=
ENST00000330883.8:c.925T=	ENSP00000328531.4:p.Ser309=
ENST00000430723.4:c.1597T=	ENSP00000387657.4:p.Ser533=
ENST00000461280.1:n.1232T=
ENST00000473610.5:n.1250T=
ENST00000532957.5:n.2168T=
NM_000238.3:c.1945T= , LRG_288t1:c.1945T=	NP_000229.1:p.Ser649=
NM_001204798.1:c.925T=	NP_001191727.1:p.Ser309=
NM_172056.2:c.1945T= , LRG_288t2:c.1945T=	NP_742053.1:p.Ser649=
NM_172057.2:c.925T= , LRG_288t3:c.925T=	NP_742054.1:p.Ser309=
XM_011516185.1:c.1645T=	XP_011514487.1:p.Ser549=
XM_011516186.1:c.1945T=	XP_011514488.1:p.Ser649=
XM_011516185.2:c.1645T=	XP_011514487.1:p.Ser549=
XM_011516186.3:c.1945T=	XP_011514488.1:p.Ser649=
XM_017012195.1:c.1795T=	XP_016867684.1:p.Ser599=
XM_017012196.1:c.1768T=	XP_016867685.1:p.Ser590=
NM_000238.4:c.1945T= MANE Select	NP_000229.1:p.Ser649=
NM_001204798.2:c.925T=	NP_001191727.1:p.Ser309=
NM_172057.3:c.925T=	NP_742054.1:p.Ser309=