Canonical Allele Identifier: CA1752429784

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947623G= , CM000669.2:g.150947623G=	GRCh38
NC_000007.13:g.150644711G= , CM000669.1:g.150644711G=	GRCh37
NC_000007.12:g.150275644G=	NCBI36
NG_008916.1:g.35304C= , LRG_288:g.35304C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3781C=
ENST00000262186.10:c.2948C= MANE Select	ENSP00000262186.5:p.Thr983=
ENST00000330883.9:c.1928C=	ENSP00000328531.4:p.Thr643=
ENST00000262186.9:c.2948C=	ENSP00000262186.5:p.Thr983=
ENST00000330883.8:c.1928C=	ENSP00000328531.4:p.Thr643=
NM_000238.3:c.2948C= , LRG_288t1:c.2948C=	NP_000229.1:p.Thr983=
NM_172057.2:c.1928C= , LRG_288t3:c.1928C=	NP_742054.1:p.Thr643=
XM_011516185.1:c.2648C=	XP_011514487.1:p.Thr883=
XM_011516186.1:c.*28C=	XP_011514488.1:n.*28C=
XM_011516185.2:c.2648C=	XP_011514487.1:p.Thr883=
XM_011516186.3:c.*28C=	XP_011514488.1:n.*28C=
XM_017012195.1:c.2798C=	XP_016867684.1:p.Thr933=
XM_017012196.1:c.2771C=	XP_016867685.1:p.Thr924=
NM_000238.4:c.2948C= MANE Select	NP_000229.1:p.Thr983=
NM_172057.3:c.1928C=	NP_742054.1:p.Thr643=