Canonical Allele Identifier: CA1752416714

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957376A= , CM000669.2:g.150957376A=	GRCh38
NC_000007.13:g.150654464A= , CM000669.1:g.150654464A=	GRCh37
NC_000007.12:g.150285397A=	NCBI36
NG_008916.1:g.25551T= , LRG_288:g.25551T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1876T=
ENST00000262186.10:c.1043T= MANE Select	ENSP00000262186.5:p.Phe348=
ENST00000262186.9:c.1043T=	ENSP00000262186.5:p.Phe348=
ENST00000430723.4:c.695T=	ENSP00000387657.4:p.Phe232=
ENST00000532957.5:n.1266T=
NM_000238.3:c.1043T= , LRG_288t1:c.1043T=	NP_000229.1:p.Phe348=
NM_172056.2:c.1043T= , LRG_288t2:c.1043T=	NP_742053.1:p.Phe348=
XM_011516185.1:c.743T=	XP_011514487.1:p.Phe248=
XM_011516186.1:c.1043T=	XP_011514488.1:p.Phe348=
XM_011516185.2:c.743T=	XP_011514487.1:p.Phe248=
XM_011516186.3:c.1043T=	XP_011514488.1:p.Phe348=
XM_017012195.1:c.893T=	XP_016867684.1:p.Phe298=
XM_017012196.1:c.866T=	XP_016867685.1:p.Phe289=
NM_000238.4:c.1043T= MANE Select	NP_000229.1:p.Phe348=