Canonical Allele Identifier: CA1752440975

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974846C= , CM000669.2:g.150974846C=	GRCh38
NC_000007.13:g.150671934C= , CM000669.1:g.150671934C=	GRCh37
NC_000007.12:g.150302867C=	NCBI36
NG_008916.1:g.8081G= , LRG_288:g.8081G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.172G= MANE Select	NP_000229.1:p.Glu58=
ENST00000262186.10:c.172G= MANE Select	ENSP00000262186.5:p.Glu58=
NM_000238.3:c.172G= , LRG_288t1:c.172G=	NP_000229.1:p.Glu58=
NM_172056.2:c.172G= , LRG_288t2:c.172G=	NP_742053.1:p.Glu58=
ENST00000262186.9:c.172G=	ENSP00000262186.5:p.Glu58=
ENST00000430723.4:c.-6G=	ENSP00000387657.4:n.-6G=
ENST00000532957.5:n.395G=
XM_011516186.1:c.172G=	XP_011514488.1:p.Glu58=
XM_011516186.3:c.172G=	XP_011514488.1:p.Glu58=
XM_017012196.1:c.-6G=	XP_016867685.1:n.-6G=