LDH info

Canonical Allele Identifier: CA006738
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 200652
ClinVar RCV Id: RCV000181983
dbSNP Id: rs794728445

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949029del , CM000669.2:g.150949029del GRCh38
NC_000007.13:g.150646117del , CM000669.1:g.150646117del GRCh37
NC_000007.12:g.150277050del NCBI36
NG_008916.1:g.33895del , LRG_288:g.33895del

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2416del , LRG_288t1:c.2416del NP_000229.1:p.Glu807SerfsTer3
NM_172057.2:c.1396del , LRG_288t3:c.1396del NP_742054.1:p.Glu467SerfsTer3
XM_011516185.1:c.2116del XP_011514487.1:p.Glu707SerfsTer3
XM_011516186.1:c.2416del XP_011514488.1:p.Glu807SerfsTer3
XM_011516185.2:c.2116del XP_011514487.1:p.Glu707SerfsTer3
XM_011516186.3:c.2416del XP_011514488.1:p.Glu807SerfsTer3
XM_017012195.1:c.2266del XP_016867684.1:p.Glu757SerfsTer3
XM_017012196.1:c.2239del XP_016867685.1:p.Glu748SerfsTer3
NM_000238.4:c.2416del VV MANE Preferred NP_000229.1:p.Glu807SerfsTer3
ENST00000262186.9:c.2416del ENSP00000262186.5:p.Glu807SerfsTer3
ENST00000330883.8:c.1396del ENSP00000328531.4:p.Glu467SerfsTer3