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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 50,000 variants.

VCF file
Select genome build