Canonical Allele Identifier: CA1752420016

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959670A= , CM000669.2:g.150959670A=	GRCh38
NC_000007.13:g.150656758A= , CM000669.1:g.150656758A=	GRCh37
NC_000007.12:g.150287691A=	NCBI36
NG_008916.1:g.23257T= , LRG_288:g.23257T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1207T=
ENST00000262186.10:c.374T= MANE Select	ENSP00000262186.5:p.Phe125=
ENST00000262186.9:c.374T=	ENSP00000262186.5:p.Phe125=
ENST00000430723.4:c.197T=	ENSP00000387657.4:p.Phe66=
ENST00000532957.5:n.597T=
NM_000238.3:c.374T= , LRG_288t1:c.374T=	NP_000229.1:p.Phe125=
NM_172056.2:c.374T= , LRG_288t2:c.374T=	NP_742053.1:p.Phe125=
XM_011516185.1:c.74T=	XP_011514487.1:p.Phe25=
XM_011516186.1:c.374T=	XP_011514488.1:p.Phe125=
XM_011516185.2:c.74T=	XP_011514487.1:p.Phe25=
XM_011516186.3:c.374T=	XP_011514488.1:p.Phe125=
XM_017012195.1:c.224T=	XP_016867684.1:p.Phe75=
XM_017012196.1:c.197T=	XP_016867685.1:p.Phe66=
NM_000238.4:c.374T= MANE Select	NP_000229.1:p.Phe125=