LDH info

Canonical Allele Identifier: CA020429
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2238
dbSNP Id: rs267607170
COSMIC: COSM14283

User contributed link-outs

CIViC: CA020429

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149814A>G , CM000665.2:g.10149814A>G GRCh38
NC_000003.11:g.10191498A>G , CM000665.1:g.10191498A>G GRCh37
NC_000003.10:g.10166498A>G NCBI36
NG_008212.3:g.13180A>G , LRG_322:g.13180A>G

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.491A>G , LRG_322t1:c.491A>G NP_000542.1:p.Gln164Arg
NM_198156.2:c.368A>G VV NP_937799.1:p.Gln123Arg
NM_001354723.1:c.*45A>G VV NP_001341652.1:p.=
NM_000551.4:c.491A>G VV MANE Preferred NP_000542.1:p.Gln164Arg
NM_001354723.2:c.*45A>G VV NP_001341652.1:p.=
NM_198156.3:c.368A>G VV NP_937799.1:p.Gln123Arg
ENST00000256474.2:c.491A>G ENSP00000256474.2:p.Gln164Arg
ENST00000345392.2:c.368A>G ENSP00000344757.2:p.Gln123Arg
ENST00000477538.1:n.627A>G