Canonical Allele Identifier: CA369859952

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952640C>T , CM000669.2:g.150952640C>T	GRCh38
NC_000007.13:g.150649728C>T , CM000669.1:g.150649728C>T	GRCh37
NC_000007.12:g.150280661C>T	NCBI36
NG_008916.1:g.30287G>A , LRG_288:g.30287G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1342G>A MANE Select	NP_000229.1:p.Ala448Thr
ENST00000262186.10:c.1342G>A MANE Select	ENSP00000262186.5:p.Ala448Thr
NM_000238.3:c.1342G>A , LRG_288t1:c.1342G>A	NP_000229.1:p.Ala448Thr
NM_001204798.1:c.322G>A	NP_001191727.1:p.Ala108Thr
NM_001204798.2:c.322G>A	NP_001191727.1:p.Ala108Thr
NM_172056.2:c.1342G>A , LRG_288t2:c.1342G>A	NP_742053.1:p.Ala448Thr
NM_172057.2:c.322G>A , LRG_288t3:c.322G>A	NP_742054.1:p.Ala108Thr
NM_172057.3:c.322G>A	NP_742054.1:p.Ala108Thr
ENST00000262186.9:c.1342G>A	ENSP00000262186.5:p.Ala448Thr
ENST00000330883.8:c.322G>A	ENSP00000328531.4:p.Ala108Thr
ENST00000330883.9:c.322G>A	ENSP00000328531.4:p.Ala108Thr
ENST00000430723.4:c.994G>A	ENSP00000387657.4:p.Ala332Thr
ENST00000461280.1:n.629G>A
ENST00000461280.2:n.640G>A
ENST00000473610.5:n.647G>A
ENST00000532957.5:n.1565G>A
ENST00000684116.1:n.235G>A
ENST00000684241.1:n.2175G>A
XM_011516185.1:c.1042G>A	XP_011514487.1:p.Ala348Thr
XM_011516185.2:c.1042G>A	XP_011514487.1:p.Ala348Thr
XM_011516186.1:c.1342G>A	XP_011514488.1:p.Ala448Thr
XM_011516186.3:c.1342G>A	XP_011514488.1:p.Ala448Thr
XM_017012195.1:c.1192G>A	XP_016867684.1:p.Ala398Thr
XM_017012196.1:c.1165G>A	XP_016867685.1:p.Ala389Thr