Canonical Allele Identifier: CA1752428375

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947334A= , CM000669.2:g.150947334A=	GRCh38
NC_000007.13:g.150644422A= , CM000669.1:g.150644422A=	GRCh37
NC_000007.12:g.150275355A=	NCBI36
NG_008916.1:g.35593T= , LRG_288:g.35593T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3979T=
ENST00000262186.10:c.3146T= MANE Select	ENSP00000262186.5:p.Leu1049=
ENST00000330883.9:c.2126T=	ENSP00000328531.4:p.Leu709=
ENST00000262186.9:c.3146T=	ENSP00000262186.5:p.Leu1049=
ENST00000330883.8:c.2126T=	ENSP00000328531.4:p.Leu709=
NM_000238.3:c.3146T= , LRG_288t1:c.3146T=	NP_000229.1:p.Leu1049=
NM_172057.2:c.2126T= , LRG_288t3:c.2126T=	NP_742054.1:p.Leu709=
XM_011516185.1:c.2846T=	XP_011514487.1:p.Leu949=
XM_011516185.2:c.2846T=	XP_011514487.1:p.Leu949=
XM_017012195.1:c.2996T=	XP_016867684.1:p.Leu999=
XM_017012196.1:c.2969T=	XP_016867685.1:p.Leu990=
NM_000238.4:c.3146T= MANE Select	NP_000229.1:p.Leu1049=
NM_172057.3:c.2126T=	NP_742054.1:p.Leu709=