Canonical Allele Identifier: CA1752441246

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974890T= , CM000669.2:g.150974890T=	GRCh38
NC_000007.13:g.150671978T= , CM000669.1:g.150671978T=	GRCh37
NC_000007.12:g.150302911T=	NCBI36
NG_008916.1:g.8037A= , LRG_288:g.8037A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.128A= MANE Select	NP_000229.1:p.Tyr43=
ENST00000262186.10:c.128A= MANE Select	ENSP00000262186.5:p.Tyr43=
NM_000238.3:c.128A= , LRG_288t1:c.128A=	NP_000229.1:p.Tyr43=
NM_172056.2:c.128A= , LRG_288t2:c.128A=	NP_742053.1:p.Tyr43=
ENST00000262186.9:c.128A=	ENSP00000262186.5:p.Tyr43=
ENST00000430723.4:c.-50A=	ENSP00000387657.4:n.-50A=
ENST00000532957.5:n.351A=
XM_011516186.1:c.128A=	XP_011514488.1:p.Tyr43=
XM_011516186.3:c.128A=	XP_011514488.1:p.Tyr43=
XM_017012196.1:c.-50A=	XP_016867685.1:n.-50A=