Canonical Allele Identifier: CA1752418649

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958413C= , CM000669.2:g.150958413C=	GRCh38
NC_000007.13:g.150655501C= , CM000669.1:g.150655501C=	GRCh37
NC_000007.12:g.150286434C=	NCBI36
NG_008916.1:g.24514G= , LRG_288:g.24514G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1395G=
ENST00000262186.10:c.562G= MANE Select	ENSP00000262186.5:p.Ala188=
ENST00000262186.9:c.562G=	ENSP00000262186.5:p.Ala188=
ENST00000430723.4:c.235-21G=	ENSP00000387657.4:n.235-21G=
ENST00000532957.5:n.785G=
NM_000238.3:c.562G= , LRG_288t1:c.562G=	NP_000229.1:p.Ala188=
NM_172056.2:c.562G= , LRG_288t2:c.562G=	NP_742053.1:p.Ala188=
XM_011516185.1:c.262G=	XP_011514487.1:p.Ala88=
XM_011516186.1:c.562G=	XP_011514488.1:p.Ala188=
XM_011516185.2:c.262G=	XP_011514487.1:p.Ala88=
XM_011516186.3:c.562G=	XP_011514488.1:p.Ala188=
XM_017012195.1:c.412G=	XP_016867684.1:p.Ala138=
XM_017012196.1:c.385G=	XP_016867685.1:p.Ala129=
NM_000238.4:c.562G= MANE Select	NP_000229.1:p.Ala188=