Canonical Allele Identifier: CA1752431926
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948930C= , CM000669.2:g.150948930C= GRCh38
NC_000007.13:g.150646018C= , CM000669.1:g.150646018C= GRCh37
NC_000007.12:g.150276951C= NCBI36
NG_008916.1:g.33997G= , LRG_288:g.33997G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3351G=
ENST00000262186.10:c.2518G= MANE Select ENSP00000262186.5:p.Glu840=
ENST00000330883.9:c.1498G= ENSP00000328531.4:p.Glu500=
ENST00000262186.9:c.2518G= ENSP00000262186.5:p.Glu840=
ENST00000330883.8:c.1498G= ENSP00000328531.4:p.Glu500=
NM_000238.3:c.2518G= , LRG_288t1:c.2518G= NP_000229.1:p.Glu840=
NM_172057.2:c.1498G= , LRG_288t3:c.1498G= NP_742054.1:p.Glu500=
XM_011516185.1:c.2218G= XP_011514487.1:p.Glu740=
XM_011516186.1:c.2518G= XP_011514488.1:p.Glu840=
XM_011516185.2:c.2218G= XP_011514487.1:p.Glu740=
XM_011516186.3:c.2518G= XP_011514488.1:p.Glu840=
XM_017012195.1:c.2368G= XP_016867684.1:p.Glu790=
XM_017012196.1:c.2341G= XP_016867685.1:p.Glu781=
NM_000238.4:c.2518G= MANE Select NP_000229.1:p.Glu840=
NM_172057.3:c.1498G= NP_742054.1:p.Glu500=