determine exon number from variant genomic coordinates
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19 months ago
cocchi.e89 ▴ 170

Simple question: is there any tool online to retrieve the exon number given a variant genomic coordinates? Ex. 16-20359634-C-G is a UMOD variant with HGVS c.884G>C (p.Gly295Ala). IS there a way to easily get the exon number starting from here?

Thank you very much in advance for any help!

exon coordinates variant human exome • 653 views
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Entering edit mode
19 months ago
rbagnall ★ 1.7k

VEP. You will need the GRCh37 build for the shown variant

Put the genomic position in the 'input data' box, reformatted like so 16 20359634 20359634 C/G

Make sure you select the 'exon and intron numbers' option. The variant will be in different exons, depending on the transcript.

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