Canonical Allele Identifier: CA1752431482
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948514A= , CM000669.2:g.150948514A= GRCh38
NC_000007.13:g.150645602A= , CM000669.1:g.150645602A= GRCh37
NC_000007.12:g.150276535A= NCBI36
NG_008916.1:g.34413T= , LRG_288:g.34413T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3455T=
ENST00000262186.10:c.2622T= MANE Select ENSP00000262186.5:p.Ser874=
ENST00000330883.9:c.1602T= ENSP00000328531.4:p.Ser534=
ENST00000262186.9:c.2622T= ENSP00000262186.5:p.Ser874=
ENST00000330883.8:c.1602T= ENSP00000328531.4:p.Ser534=
NM_000238.3:c.2622T= , LRG_288t1:c.2622T= NP_000229.1:p.Ser874=
NM_172057.2:c.1602T= , LRG_288t3:c.1602T= NP_742054.1:p.Ser534=
XM_011516185.1:c.2322T= XP_011514487.1:p.Ser774=
XM_011516186.1:c.2622T= XP_011514488.1:p.Ser874=
XM_011516185.2:c.2322T= XP_011514487.1:p.Ser774=
XM_011516186.3:c.2622T= XP_011514488.1:p.Ser874=
XM_017012195.1:c.2472T= XP_016867684.1:p.Ser824=
XM_017012196.1:c.2445T= XP_016867685.1:p.Ser815=
NM_000238.4:c.2622T= MANE Select NP_000229.1:p.Ser874=
NM_172057.3:c.1602T= NP_742054.1:p.Ser534=