Last modified October 30, 2015 -
NOTE: this website is frozen
since May 1, 2016. It has been replaced by a new version at http://www.ithutajv.com/varnomen.
These pages serve as archival copy only.
This page lists the latest changes in the HGVS recommendations for the
description of sequence changes and shows the latest version number. For
Accepted proposals include SVD-WG001
SVD-WG001 (No change)
allows descriptions like g.11890634G=, c.123G=, r.123g= and p.(Arg41=).
SVD-WG001 (n. reference sequence)
allows descriptions like NR_028379.1(FTX):n.345A>G.
Variants affecting translation termination - at
protein level, variants that replace the translation termination codon
but do not encounter a new stop codon in the new reading frame are
described using the format "p.*321Argext*?", frame shift variants with
the same effect are described using the format "p.Ile321Argfs*?" (see Protein
- Protein description between brackets
- brackets can be omitted when there is sufficient
experimental proof from other studies.
- Variants affecting translation initiation
- at protein level, variants that generate a new upstream
translation initiation codons are described using the format
"p.Met1ext-5" (see Discussion).
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