Canonical Allele Identifier: CA1752416919

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957463G= , CM000669.2:g.150957463G=	GRCh38
NC_000007.13:g.150654551G= , CM000669.1:g.150654551G=	GRCh37
NC_000007.12:g.150285484G=	NCBI36
NG_008916.1:g.25464C= , LRG_288:g.25464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1789C=
ENST00000262186.10:c.956C= MANE Select	ENSP00000262186.5:p.Thr319=
ENST00000262186.9:c.956C=	ENSP00000262186.5:p.Thr319=
ENST00000430723.4:c.608C=	ENSP00000387657.4:p.Thr203=
ENST00000532957.5:n.1179C=
NM_000238.3:c.956C= , LRG_288t1:c.956C=	NP_000229.1:p.Thr319=
NM_172056.2:c.956C= , LRG_288t2:c.956C=	NP_742053.1:p.Thr319=
XM_011516185.1:c.656C=	XP_011514487.1:p.Thr219=
XM_011516186.1:c.956C=	XP_011514488.1:p.Thr319=
XM_011516185.2:c.656C=	XP_011514487.1:p.Thr219=
XM_011516186.3:c.956C=	XP_011514488.1:p.Thr319=
XM_017012195.1:c.806C=	XP_016867684.1:p.Thr269=
XM_017012196.1:c.779C=	XP_016867685.1:p.Thr260=
NM_000238.4:c.956C= MANE Select	NP_000229.1:p.Thr319=