Genomic Cordinate to HGVS format

Question

[goyal.swati]

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 !

Answer 1

[dyollluap]

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).