Canonical Allele Identifier: CA458645112

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948861G>T , CM000669.2:g.150948861G>T	GRCh38
NC_000007.13:g.150645949G>T , CM000669.1:g.150645949G>T	GRCh37
NC_000007.12:g.150276882G>T	NCBI36
NG_008916.1:g.34066C>A , LRG_288:g.34066C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2587C>A MANE Select	NP_000229.1:p.Arg863=
ENST00000262186.10:c.2587C>A MANE Select	ENSP00000262186.5:p.Arg863=
NM_000238.3:c.2587C>A , LRG_288t1:c.2587C>A	NP_000229.1:p.Arg863=
NM_172057.2:c.1567C>A , LRG_288t3:c.1567C>A	NP_742054.1:p.Arg523=
NM_172057.3:c.1567C>A	NP_742054.1:p.Arg523=
ENST00000262186.9:c.2587C>A	ENSP00000262186.5:p.Arg863=
ENST00000330883.8:c.1567C>A	ENSP00000328531.4:p.Arg523=
ENST00000330883.9:c.1567C>A	ENSP00000328531.4:p.Arg523=
ENST00000684241.1:n.3420C>A
XM_011516185.1:c.2287C>A	XP_011514487.1:p.Arg763=
XM_011516185.2:c.2287C>A	XP_011514487.1:p.Arg763=
XM_011516186.1:c.2587C>A	XP_011514488.1:p.Arg863=
XM_011516186.3:c.2587C>A	XP_011514488.1:p.Arg863=
XM_017012195.1:c.2437C>A	XP_016867684.1:p.Arg813=
XM_017012196.1:c.2410C>A	XP_016867685.1:p.Arg804=