Canonical Allele Identifier: CA007657

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947639C>A , CM000669.2:g.150947639C>A	GRCh38
NC_000007.13:g.150644727C>A , CM000669.1:g.150644727C>A	GRCh37
NC_000007.12:g.150275660C>A	NCBI36
NG_008916.1:g.35288G>T , LRG_288:g.35288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3765G>T
ENST00000262186.10:c.2932G>T MANE Select	ENSP00000262186.5:p.Glu978Ter
ENST00000330883.9:c.1912G>T	ENSP00000328531.4:p.Glu638Ter
ENST00000262186.9:c.2932G>T	ENSP00000262186.5:p.Glu978Ter
ENST00000330883.8:c.1912G>T	ENSP00000328531.4:p.Glu638Ter
NM_000238.3:c.2932G>T , LRG_288t1:c.2932G>T	NP_000229.1:p.Glu978Ter
NM_172057.2:c.1912G>T , LRG_288t3:c.1912G>T	NP_742054.1:p.Glu638Ter
XM_011516185.1:c.2632G>T	XP_011514487.1:p.Glu878Ter
XM_011516186.1:c.*12G>T	XP_011514488.1:n.*12G>T
XM_011516185.2:c.2632G>T	XP_011514487.1:p.Glu878Ter
XM_011516186.3:c.*12G>T	XP_011514488.1:n.*12G>T
XM_017012195.1:c.2782G>T	XP_016867684.1:p.Glu928Ter
XM_017012196.1:c.2755G>T	XP_016867685.1:p.Glu919Ter
NM_000238.4:c.2932G>T MANE Select	NP_000229.1:p.Glu978Ter
NM_172057.3:c.1912G>T	NP_742054.1:p.Glu638Ter