Canonical Allele Identifier: CA1752412172
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952753C= , CM000669.2:g.150952753C= GRCh38
NC_000007.13:g.150649841C= , CM000669.1:g.150649841C= GRCh37
NC_000007.12:g.150280774C= NCBI36
NG_008916.1:g.30174G= , LRG_288:g.30174G=

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.527G=
ENST00000684116.1:n.122G=
ENST00000684241.1:n.2062G=
ENST00000262186.10:c.1229G= MANE Select ENSP00000262186.5:p.Trp410=
ENST00000330883.9:c.209G= ENSP00000328531.4:p.Trp70=
ENST00000262186.9:c.1229G= ENSP00000262186.5:p.Trp410=
ENST00000330883.8:c.209G= ENSP00000328531.4:p.Trp70=
ENST00000430723.4:c.881G= ENSP00000387657.4:p.Trp294=
ENST00000461280.1:n.516G=
ENST00000473610.5:n.534G=
ENST00000532957.5:n.1452G=
NM_000238.3:c.1229G= , LRG_288t1:c.1229G= NP_000229.1:p.Trp410=
NM_001204798.1:c.209G= NP_001191727.1:p.Trp70=
NM_172056.2:c.1229G= , LRG_288t2:c.1229G= NP_742053.1:p.Trp410=
NM_172057.2:c.209G= , LRG_288t3:c.209G= NP_742054.1:p.Trp70=
XM_011516185.1:c.929G= XP_011514487.1:p.Trp310=
XM_011516186.1:c.1229G= XP_011514488.1:p.Trp410=
XM_011516185.2:c.929G= XP_011514487.1:p.Trp310=
XM_011516186.3:c.1229G= XP_011514488.1:p.Trp410=
XM_017012195.1:c.1079G= XP_016867684.1:p.Trp360=
XM_017012196.1:c.1052G= XP_016867685.1:p.Trp351=
NM_000238.4:c.1229G= MANE Select NP_000229.1:p.Trp410=
NM_001204798.2:c.209G= NP_001191727.1:p.Trp70=
NM_172057.3:c.209G= NP_742054.1:p.Trp70=