This application shows the description of the variant in the various formats (Local, VCF, HGVS genomic and HGVS of all isoforms).
It also shows the affected region and the biological effect of the variant on the protein.
Note that this application aligns the 'gaps' (indel) on the left in the Local and VCF formats, while it aligns them on the right in HGVS formats
Furthermore, it also checks that the possible sequence of the references is correct (warns if incorrect)and checks whether to consider the duplication or inversion variant.

If the variant falls within the CDS, it is possible to see the alignment of the genomic, transcript and protein sequence (with the protein change) in a region around the variant using the link to the 'AlignTrascript' application present in this platform

Try our example
Example 1): Gene LMNA     Variant:c.51C>T     (simple query)
Example 2): Gene LMNA     Variant:c.45G>C    ID cDNA: NM_170707, protein variant: p.Gln16His
deliberately the protein variant is wrong, exactly it would be p.Gln15His
Example 3): Gene LMNA     variant: c.45A>C (deliberately, reference is wrong)    
Example 4): Gene LMNA     variant: c.45del ('FrameShift' and deliberately 'del' is not HGVS aligned )    

Genomic Release:
Data Input mRNA variant in HGVS format
   HGVS string: c.
         format example: 'c.25A>C' 'c.45del' etc)
        our HGVS simple examples 		  Gene:    AND/OR transcript ID:
Protein change p.
in hgvs example: p.Ser12Thr (Only for control)		 The name of the gene or ID transcript (NM_..) is required
Note: the maximum length of the reference or variant sequence must be 250 nt
HGVS nomenclature
The HGVS (Human Genome Variation Society) is an internationally-recognized standard for the description of DNA, RNA, and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases.


To help the user, the program, also accepts incorrect HGVS format. If it can unambiguously interpret the user's intention, it rewrites the variants in the correct HGVS format (see below).

HGVS nomenclature our summary and simple examples