Information

Be aware that for some genes e.g. COL1A1, 1 genomic (g.) variant will output 1 variant because COL1A1 has a single version of a single transcript variant
For other genes e.g. TP53, 1 genomic (g.) variant could output up to 15 variants because TP53 has several versions of 8 transcript variants
Validation requests are currently limited to 25000 variant descriptions
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 (link at the top of the page)

Input variant descriptions

Enter variant descriptions

Limit search, optionally, to specific genes: Use HGNC gene symbols

Enter email address

Select Alignment Method
Select Genome Build

On submission, results will be returned by email once validation is complete