Conversion from "gnomAD Variant ID" to "HGVS.g"
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5 months ago
Adams • 0

Dear All,

I had some problems converting the Variant ID of gnomAD to HGVS.g:

The Variant ID of gnomAD has the format like "17-43043694-G-C(GRCh38)", It's easy to convert if it's just SNV, I just need to change the "-" to ">", like "NC_000017.11:g.43043694G>C".

However, when the variant type is not SNV, such as "indel", like "chr17:g.43044335-CACA-C", it is necessary to manually check the reference sequence to convert.

I would like to ask if there is any script or software that can automatically convert the Variant ID of gnomAD to HGVS.g.

Thanks a lot in advance for any help!

HGVS gnomAD Conversion • 142 views
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