Canonical Allele Identifier: CA1752430130

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947729G= , CM000669.2:g.150947729G=	GRCh38
NC_000007.13:g.150644817G= , CM000669.1:g.150644817G=	GRCh37
NC_000007.12:g.150275750G=	NCBI36
NG_008916.1:g.35198C= , LRG_288:g.35198C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2842C= MANE Select	NP_000229.1:p.Arg948=
ENST00000262186.10:c.2842C= MANE Select	ENSP00000262186.5:p.Arg948=
NM_000238.3:c.2842C= , LRG_288t1:c.2842C=	NP_000229.1:p.Arg948=
NM_172057.2:c.1822C= , LRG_288t3:c.1822C=	NP_742054.1:p.Arg608=
NM_172057.3:c.1822C=	NP_742054.1:p.Arg608=
ENST00000262186.9:c.2842C=	ENSP00000262186.5:p.Arg948=
ENST00000330883.8:c.1822C=	ENSP00000328531.4:p.Arg608=
ENST00000330883.9:c.1822C=	ENSP00000328531.4:p.Arg608=
ENST00000684241.1:n.3675C=
XM_011516185.1:c.2542C=	XP_011514487.1:p.Arg848=
XM_011516185.2:c.2542C=	XP_011514487.1:p.Arg848=
XM_011516186.1:c.2693-38C=	XP_011514488.1:n.2693-38C=
XM_011516186.3:c.2693-38C=	XP_011514488.1:n.2693-38C=
XM_017012195.1:c.2692C=	XP_016867684.1:p.Arg898=
XM_017012196.1:c.2665C=	XP_016867685.1:p.Arg889=