Canonical Allele Identifier: CA1752420111
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959713C= , CM000669.2:g.150959713C= GRCh38
NC_000007.13:g.150656801C= , CM000669.1:g.150656801C= GRCh37
NC_000007.12:g.150287734C= NCBI36
NG_008916.1:g.23214G= , LRG_288:g.23214G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1164G=
ENST00000262186.10:c.331G= MANE Select ENSP00000262186.5:p.Asp111=
ENST00000262186.9:c.331G= ENSP00000262186.5:p.Asp111=
ENST00000430723.4:c.154G= ENSP00000387657.4:p.Asp52=
ENST00000532957.5:n.554G=
NM_000238.3:c.331G= , LRG_288t1:c.331G= NP_000229.1:p.Asp111=
NM_172056.2:c.331G= , LRG_288t2:c.331G= NP_742053.1:p.Asp111=
XM_011516185.1:c.31G= XP_011514487.1:p.Asp11=
XM_011516186.1:c.331G= XP_011514488.1:p.Asp111=
XM_011516185.2:c.31G= XP_011514487.1:p.Asp11=
XM_011516186.3:c.331G= XP_011514488.1:p.Asp111=
XM_017012195.1:c.181G= XP_016867684.1:p.Asp61=
XM_017012196.1:c.154G= XP_016867685.1:p.Asp52=
NM_000238.4:c.331G= MANE Select NP_000229.1:p.Asp111=