Canonical Allele Identifier: CA1752417980

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958159G= , CM000669.2:g.150958159G=	GRCh38
NC_000007.13:g.150655247G= , CM000669.1:g.150655247G=	GRCh37
NC_000007.12:g.150286180G=	NCBI36
NG_008916.1:g.24768C= , LRG_288:g.24768C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1649C=
ENST00000262186.10:c.816C= MANE Select	ENSP00000262186.5:p.Ser272=
ENST00000262186.9:c.816C=	ENSP00000262186.5:p.Ser272=
ENST00000430723.4:c.468C=	ENSP00000387657.4:p.Ser156=
ENST00000532957.5:n.1039C=
NM_000238.3:c.816C= , LRG_288t1:c.816C=	NP_000229.1:p.Ser272=
NM_172056.2:c.816C= , LRG_288t2:c.816C=	NP_742053.1:p.Ser272=
XM_011516185.1:c.516C=	XP_011514487.1:p.Ser172=
XM_011516186.1:c.816C=	XP_011514488.1:p.Ser272=
XM_011516185.2:c.516C=	XP_011514487.1:p.Ser172=
XM_011516186.3:c.816C=	XP_011514488.1:p.Ser272=
XM_017012195.1:c.666C=	XP_016867684.1:p.Ser222=
XM_017012196.1:c.639C=	XP_016867685.1:p.Ser213=
NM_000238.4:c.816C= MANE Select	NP_000229.1:p.Ser272=