Canonical Allele Identifier: CA1752416733

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957381G= , CM000669.2:g.150957381G=	GRCh38
NC_000007.13:g.150654469G= , CM000669.1:g.150654469G=	GRCh37
NC_000007.12:g.150285402G=	NCBI36
NG_008916.1:g.25546C= , LRG_288:g.25546C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1871C=
ENST00000262186.10:c.1038C= MANE Select	ENSP00000262186.5:p.Asp346=
ENST00000262186.9:c.1038C=	ENSP00000262186.5:p.Asp346=
ENST00000430723.4:c.690C=	ENSP00000387657.4:p.Asp230=
ENST00000532957.5:n.1261C=
NM_000238.3:c.1038C= , LRG_288t1:c.1038C=	NP_000229.1:p.Asp346=
NM_172056.2:c.1038C= , LRG_288t2:c.1038C=	NP_742053.1:p.Asp346=
XM_011516185.1:c.738C=	XP_011514487.1:p.Asp246=
XM_011516186.1:c.1038C=	XP_011514488.1:p.Asp346=
XM_011516185.2:c.738C=	XP_011514487.1:p.Asp246=
XM_011516186.3:c.1038C=	XP_011514488.1:p.Asp346=
XM_017012195.1:c.888C=	XP_016867684.1:p.Asp296=
XM_017012196.1:c.861C=	XP_016867685.1:p.Asp287=
NM_000238.4:c.1038C= MANE Select	NP_000229.1:p.Asp346=