LDH info

Canonical Allele Identifier: CA020338
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2221
ClinVar RCV Id: RCV000002307
dbSNP Id: rs119103278
COSMIC: COSM18416

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146578A>C , CM000665.2:g.10146578A>C GRCh38
NC_000003.11:g.10188262A>C , CM000665.1:g.10188262A>C GRCh37
NC_000003.10:g.10163262A>C NCBI36
NG_008212.3:g.9944A>C , LRG_322:g.9944A>C

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.405A>C , LRG_322t1:c.405A>C NP_000542.1:p.Leu135Phe
NM_198156.2:c.341-3209A>C VV NP_937799.1:p.=
XM_011534078.1:c.*82A>C XP_011532380.1:p.=
NM_001354723.1:c.*18-3209A>C VV NP_001341652.1:p.=
NM_000551.4:c.405A>C VV MANE Preferred NP_000542.1:p.Leu135Phe
NM_001354723.2:c.*18-3209A>C VV NP_001341652.1:p.=
NM_198156.3:c.341-3209A>C VV NP_937799.1:p.=
ENST00000256474.2:c.405A>C ENSP00000256474.2:p.Leu135Phe
ENST00000345392.2:c.341-3209A>C ENSP00000344757.2:p.=
ENST00000477538.1:n.541A>C