Canonical Allele Identifier: CA1752427325
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150946890T= , CM000669.2:g.150946890T= GRCh38
NC_000007.13:g.150643978T= , CM000669.1:g.150643978T= GRCh37
NC_000007.12:g.150274911T= NCBI36
NG_008916.1:g.36037A= , LRG_288:g.36037A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.4150A=
ENST00000262186.10:c.3317A= MANE Select ENSP00000262186.5:p.Asp1106=
ENST00000330883.9:c.2297A= ENSP00000328531.4:p.Asp766=
ENST00000262186.9:c.3317A= ENSP00000262186.5:p.Asp1106=
ENST00000330883.8:c.2297A= ENSP00000328531.4:p.Asp766=
NM_000238.3:c.3317A= , LRG_288t1:c.3317A= NP_000229.1:p.Asp1106=
NM_172057.2:c.2297A= , LRG_288t3:c.2297A= NP_742054.1:p.Asp766=
XM_011516185.1:c.3017A= XP_011514487.1:p.Asp1006=
XM_011516185.2:c.3017A= XP_011514487.1:p.Asp1006=
XM_017012195.1:c.3167A= XP_016867684.1:p.Asp1056=
XM_017012196.1:c.3140A= XP_016867685.1:p.Asp1047=
NM_000238.4:c.3317A= MANE Select NP_000229.1:p.Asp1106=
NM_172057.3:c.2297A= NP_742054.1:p.Asp766=