Canonical Allele Identifier: CA3146465355

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947007A= , CM000669.2:g.150947007A=	GRCh38
NC_000007.13:g.150644095A= , CM000669.1:g.150644095A=	GRCh37
NC_000007.12:g.150275028A=	NCBI36
NG_008916.1:g.35920T= , LRG_288:g.35920T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3200T= MANE Select	NP_000229.1:p.Leu1067=
ENST00000262186.10:c.3200T= MANE Select	ENSP00000262186.5:p.Leu1067=
NM_000238.3:c.3200T= , LRG_288t1:c.3200T=	NP_000229.1:p.Leu1067=
NM_172057.2:c.2180T= , LRG_288t3:c.2180T=	NP_742054.1:p.Leu727=
NM_172057.3:c.2180T=	NP_742054.1:p.Leu727=
ENST00000262186.9:c.3200T=	ENSP00000262186.5:p.Leu1067=
ENST00000330883.8:c.2180T=	ENSP00000328531.4:p.Leu727=
ENST00000330883.9:c.2180T=	ENSP00000328531.4:p.Leu727=
ENST00000684241.1:n.4033T=
XM_011516185.1:c.2900T=	XP_011514487.1:p.Leu967=
XM_011516185.2:c.2900T=	XP_011514487.1:p.Leu967=
XM_017012195.1:c.3050T=	XP_016867684.1:p.Leu1017=
XM_017012196.1:c.3023T=	XP_016867685.1:p.Leu1008=