Canonical Allele Identifier: CA1752429880
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947648C= , CM000669.2:g.150947648C= GRCh38
NC_000007.13:g.150644736C= , CM000669.1:g.150644736C= GRCh37
NC_000007.12:g.150275669C= NCBI36
NG_008916.1:g.35279G= , LRG_288:g.35279G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3756G=
ENST00000262186.10:c.2923G= MANE Select ENSP00000262186.5:p.Glu975=
ENST00000330883.9:c.1903G= ENSP00000328531.4:p.Glu635=
ENST00000262186.9:c.2923G= ENSP00000262186.5:p.Glu975=
ENST00000330883.8:c.1903G= ENSP00000328531.4:p.Glu635=
NM_000238.3:c.2923G= , LRG_288t1:c.2923G= NP_000229.1:p.Glu975=
NM_172057.2:c.1903G= , LRG_288t3:c.1903G= NP_742054.1:p.Glu635=
XM_011516185.1:c.2623G= XP_011514487.1:p.Glu875=
XM_011516186.1:c.*3G= XP_011514488.1:n.*3G=
XM_011516185.2:c.2623G= XP_011514487.1:p.Glu875=
XM_011516186.3:c.*3G= XP_011514488.1:n.*3G=
XM_017012195.1:c.2773G= XP_016867684.1:p.Glu925=
XM_017012196.1:c.2746G= XP_016867685.1:p.Glu916=
NM_000238.4:c.2923G= MANE Select NP_000229.1:p.Glu975=
NM_172057.3:c.1903G= NP_742054.1:p.Glu635=