Canonical Allele Identifier: CA1752431265
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948448G= , CM000669.2:g.150948448G= GRCh38
NC_000007.13:g.150645536G= , CM000669.1:g.150645536G= GRCh37
NC_000007.12:g.150276469G= NCBI36
NG_008916.1:g.34479C= , LRG_288:g.34479C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3521C=
ENST00000262186.10:c.2688C= MANE Select ENSP00000262186.5:p.Asp896=
ENST00000330883.9:c.1668C= ENSP00000328531.4:p.Asp556=
ENST00000262186.9:c.2688C= ENSP00000262186.5:p.Asp896=
ENST00000330883.8:c.1668C= ENSP00000328531.4:p.Asp556=
NM_000238.3:c.2688C= , LRG_288t1:c.2688C= NP_000229.1:p.Asp896=
NM_172057.2:c.1668C= , LRG_288t3:c.1668C= NP_742054.1:p.Asp556=
XM_011516185.1:c.2388C= XP_011514487.1:p.Asp796=
XM_011516186.1:c.2688C= XP_011514488.1:p.Asp896=
XM_011516185.2:c.2388C= XP_011514487.1:p.Asp796=
XM_011516186.3:c.2688C= XP_011514488.1:p.Asp896=
XM_017012195.1:c.2538C= XP_016867684.1:p.Asp846=
XM_017012196.1:c.2511C= XP_016867685.1:p.Asp837=
NM_000238.4:c.2688C= MANE Select NP_000229.1:p.Asp896=
NM_172057.3:c.1668C= NP_742054.1:p.Asp556=