Canonical Allele Identifier: CA1752431815
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948861G= , CM000669.2:g.150948861G= GRCh38
NC_000007.13:g.150645949G= , CM000669.1:g.150645949G= GRCh37
NC_000007.12:g.150276882G= NCBI36
NG_008916.1:g.34066C= , LRG_288:g.34066C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3420C=
ENST00000262186.10:c.2587C= MANE Select ENSP00000262186.5:p.Arg863=
ENST00000330883.9:c.1567C= ENSP00000328531.4:p.Arg523=
ENST00000262186.9:c.2587C= ENSP00000262186.5:p.Arg863=
ENST00000330883.8:c.1567C= ENSP00000328531.4:p.Arg523=
NM_000238.3:c.2587C= , LRG_288t1:c.2587C= NP_000229.1:p.Arg863=
NM_172057.2:c.1567C= , LRG_288t3:c.1567C= NP_742054.1:p.Arg523=
XM_011516185.1:c.2287C= XP_011514487.1:p.Arg763=
XM_011516186.1:c.2587C= XP_011514488.1:p.Arg863=
XM_011516185.2:c.2287C= XP_011514487.1:p.Arg763=
XM_011516186.3:c.2587C= XP_011514488.1:p.Arg863=
XM_017012195.1:c.2437C= XP_016867684.1:p.Arg813=
XM_017012196.1:c.2410C= XP_016867685.1:p.Arg804=
NM_000238.4:c.2587C= MANE Select NP_000229.1:p.Arg863=
NM_172057.3:c.1567C= NP_742054.1:p.Arg523=