Canonical Allele Identifier: CA1752432044
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948996A= , CM000669.2:g.150948996A= GRCh38
NC_000007.13:g.150646084A= , CM000669.1:g.150646084A= GRCh37
NC_000007.12:g.150277017A= NCBI36
NG_008916.1:g.33931T= , LRG_288:g.33931T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3285T=
ENST00000262186.10:c.2452T= MANE Select ENSP00000262186.5:p.Ser818=
ENST00000330883.9:c.1432T= ENSP00000328531.4:p.Ser478=
ENST00000262186.9:c.2452T= ENSP00000262186.5:p.Ser818=
ENST00000330883.8:c.1432T= ENSP00000328531.4:p.Ser478=
NM_000238.3:c.2452T= , LRG_288t1:c.2452T= NP_000229.1:p.Ser818=
NM_172057.2:c.1432T= , LRG_288t3:c.1432T= NP_742054.1:p.Ser478=
XM_011516185.1:c.2152T= XP_011514487.1:p.Ser718=
XM_011516186.1:c.2452T= XP_011514488.1:p.Ser818=
XM_011516185.2:c.2152T= XP_011514487.1:p.Ser718=
XM_011516186.3:c.2452T= XP_011514488.1:p.Ser818=
XM_017012195.1:c.2302T= XP_016867684.1:p.Ser768=
XM_017012196.1:c.2275T= XP_016867685.1:p.Ser759=
NM_000238.4:c.2452T= MANE Select NP_000229.1:p.Ser818=
NM_172057.3:c.1432T= NP_742054.1:p.Ser478=