Genomic Cordinate to HGVS format

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

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updated 9.7 years ago by dyollluap

• written 9.7 years ago by goyal.swati •

1 answer

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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written 9.7 years ago by dyollluap

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