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VCF to HGVS

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Instructions
  1. Select VCF file to upload
  2. Optional: Specify genes of interest
  3. Provide email address
  4. Select genome build
Workflow
  • If gene(s) and transcript(s) are specified, only VCF calls which map within the boundaries of
  • specified transcript(s) will be retained.
  • Results will be returned by the batch validator tool via email.
  • VCF calls will be returned in the format chrX-12345-REF-ALT. The tool will process a maximum of 25,000 variants.
  • If you are unsure whether your gene(s) of interest are likely to produce multiple variants for each genomic (g.) variant, you can check the number of transcripts by submitting the gene symbol to Gene to Transcripts.
  • For more help and information see the instructions here.
  • Servers are re-started on a weekly basis on a Sunday, so we do not recommend submitting jobs of >10,000 variants past 5pm GMT on these days

VCF file
Select genome build