Canonical Allele Identifier: CA1752418803

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958487A= , CM000669.2:g.150958487A=	GRCh38
NC_000007.13:g.150655575A= , CM000669.1:g.150655575A=	GRCh37
NC_000007.12:g.150286508A=	NCBI36
NG_008916.1:g.24440T= , LRG_288:g.24440T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1321T=
ENST00000262186.10:c.488T= MANE Select	ENSP00000262186.5:p.Phe163=
ENST00000262186.9:c.488T=	ENSP00000262186.5:p.Phe163=
ENST00000430723.4:c.235-95T=	ENSP00000387657.4:n.235-95T=
ENST00000532957.5:n.711T=
NM_000238.3:c.488T= , LRG_288t1:c.488T=	NP_000229.1:p.Phe163=
NM_172056.2:c.488T= , LRG_288t2:c.488T=	NP_742053.1:p.Phe163=
XM_011516185.1:c.188T=	XP_011514487.1:p.Phe63=
XM_011516186.1:c.488T=	XP_011514488.1:p.Phe163=
XM_011516185.2:c.188T=	XP_011514487.1:p.Phe63=
XM_011516186.3:c.488T=	XP_011514488.1:p.Phe163=
XM_017012195.1:c.338T=	XP_016867684.1:p.Phe113=
XM_017012196.1:c.311T=	XP_016867685.1:p.Phe104=
NM_000238.4:c.488T= MANE Select	NP_000229.1:p.Phe163=