Canonical Allele Identifier: CA1752419899
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959613T= , CM000669.2:g.150959613T= GRCh38
NC_000007.13:g.150656701T= , CM000669.1:g.150656701T= GRCh37
NC_000007.12:g.150287634T= NCBI36
NG_008916.1:g.23314A= , LRG_288:g.23314A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1264A=
ENST00000262186.10:c.431A= MANE Select ENSP00000262186.5:p.Asp144=
ENST00000262186.9:c.431A= ENSP00000262186.5:p.Asp144=
ENST00000430723.4:c.234+20A= ENSP00000387657.4:n.234+20A=
ENST00000532957.5:n.654A=
NM_000238.3:c.431A= , LRG_288t1:c.431A= NP_000229.1:p.Asp144=
NM_172056.2:c.431A= , LRG_288t2:c.431A= NP_742053.1:p.Asp144=
XM_011516185.1:c.131A= XP_011514487.1:p.Asp44=
XM_011516186.1:c.431A= XP_011514488.1:p.Asp144=
XM_011516185.2:c.131A= XP_011514487.1:p.Asp44=
XM_011516186.3:c.431A= XP_011514488.1:p.Asp144=
XM_017012195.1:c.281A= XP_016867684.1:p.Asp94=
XM_017012196.1:c.254A= XP_016867685.1:p.Asp85=
NM_000238.4:c.431A= MANE Select NP_000229.1:p.Asp144=