Genomic Cordinate to HGVS format
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7.4 years ago

Hi,

I want to convert genomic coordinate at variant location in HGVS format. Are there any libraries or tools available for that ?

Example : For Chr9: 34649442 A to G should give GALT_c.940A>G for given transcript.

Thanks !

HGVS • 1.7k views
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7.4 years ago
dyollluap ▴ 310

If you have the input data as a VCF format file, use VEP to annotate the genomic coordinates and select HGVS in the outputs (--hgvs).

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