NCBI

Human Variation: Search, Annotate, Submit

Search for variation in the human genome using HGVS nomenclature.

You may then proceed to submit a new variant, or add information to one already in the database. If you have multiple variants to submit, a batch form is available which can be submitted here.
Your submissions will be processed into ClinVar and assigned ClinVar accessions (SCV). Novel variant locations will also be accessioned in dbSNP or dbVar as appropriate. Please contact us if you have any questions.
dbSNP and dbVar variant positions are now based GRCh38.

Explanation

When you submit an HGVS expression, we validate that the asserted allele in HGVS matches the allele on the HGVS sequence and then map the location to the current human reference genome. If your HGVS expression cannot be mapped to the current human reference genome, the submission will not be processed currently. We regret any inconvenience this may cause.

If the placement or the alignment is successful, the sequence variant is searched in dbSNP. The matching record, if found, is returned and you can choose to annotate it; otherwise, you can submit it to dbSNP as a new record.

Click to run examples:
  • cDNA examples (position 1 is at A of the ATG-translation initiation codon):
    • NM_001234.3:c.123T>C
    • NM_001234.3:c.114+26G>A
    • NM_001234.3:c.115-89G>T
    • NM_000232.3:c.1-190A>T
    • NM_000018.2:c.997_998insT
  • cDNA examples (position 1 is at the beginning of the sequence):
    • U14680.1:c.1606A>C
  • Genomic notation examples:
    • NG_009816.1:g.39651C>G
    • NG_007397.1:g.111435delA
    • NG_009785.1:g.6731_6743dup13
    • NG_007397.1:g.164526_164527insTTCTTTCAGT
  • Protein notation examples (both 1-letter and 3-letter protein residue encodings are allowed. Use '*' or 'Ter' for translation termination):
    • NP_009294.1:p.V108M
    • NP_009294.1:p.Val108Met
    • NP_056019.1:p.Asn583Asp

(For help on how to form appropriate search terms, please read HGVS recommendations for nomenclature to describe sequence variants.)

Mapping to the human genome ...

 Please be patient while this process is running. It can take up to several minutes or even longer to complete.