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.
As of March 15, 2012, this web tool "Human Variation: Search, Annotate, Submit" has been switched to a new back-end computation code base for better performance. If you find any errors or wish to request a feature, please Write to Us and let us know the problem or request.

Explanation

How it works: When you submit an HGVS expression, we validate it using a RefSeqGene. If there is no RefSeqGene corresponding to your HGVS expression, or the cDNA included in the expression is not aligned to the RefSeqGene, at present we will not process your submission. We regret any inconvenience this may cause, but we welcome your request to have an RefSeqGene created or an alignment added.

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_001225.1:p.L9L
    • NP_001225.1:p.Leu9Leu
    • NP_009294.1:p.V108M
    • NP_009294.1:p.Val108Met

(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.