Canonical Allele Identifier: CA1752430547

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947877G= , CM000669.2:g.150947877G=	GRCh38
NC_000007.13:g.150644965G= , CM000669.1:g.150644965G=	GRCh37
NC_000007.12:g.150275898G=	NCBI36
NG_008916.1:g.35050C= , LRG_288:g.35050C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3527C=
ENST00000262186.10:c.2694C= MANE Select	ENSP00000262186.5:p.Asp898=
ENST00000330883.9:c.1674C=	ENSP00000328531.4:p.Asp558=
ENST00000262186.9:c.2694C=	ENSP00000262186.5:p.Asp898=
ENST00000330883.8:c.1674C=	ENSP00000328531.4:p.Asp558=
NM_000238.3:c.2694C= , LRG_288t1:c.2694C=	NP_000229.1:p.Asp898=
NM_172057.2:c.1674C= , LRG_288t3:c.1674C=	NP_742054.1:p.Asp558=
XM_011516185.1:c.2394C=	XP_011514487.1:p.Asp798=
XM_011516186.1:c.2693-186C=	XP_011514488.1:n.2693-186C=
XM_011516185.2:c.2394C=	XP_011514487.1:p.Asp798=
XM_011516186.3:c.2693-186C=	XP_011514488.1:n.2693-186C=
XM_017012195.1:c.2544C=	XP_016867684.1:p.Asp848=
XM_017012196.1:c.2517C=	XP_016867685.1:p.Asp839=
NM_000238.4:c.2694C= MANE Select	NP_000229.1:p.Asp898=
NM_172057.3:c.1674C=	NP_742054.1:p.Asp558=