HGVS converter

Translate any HGVS to hg38 genomic coordinates in batch.

We partially support protein based HGVS strings (:p.*), check examples.

Input formats

Examples of supported HGVS Notations

  • Substitution: NM_000492.3:c.983T>A
  • Deletion: NM_000492.3:c.156_158delATT
  • Insertion: NM_000492.3:c.218dupT
  • Duplication: NM_000492.3:c.1345_1346dupGA
  • Inversion: NM_000492.3:c.1029_1035inv
  • LRG variant: LRG_301t1:c.2430del
  • NC variant: NC_000016.10:g.68829788del
  • Protein, gene name: AGT:p.Met259Ser
  • Substitution, gene name: ATP7B:c.3207C>A
  • Protein: NM_001384479.1:p.Met259Arg

About this tool

HGVS (Human Genome Variation Society) is a standardized nomenclature system for describing genetic variations in the human genome. It was developed to facilitate communication among scientists, clinicians, and genetic counselors about genetic variations and their effects on health and disease. The HGVS nomenclature includes guidelines for describing different types of genetic variations, such as single nucleotide substitutions, insertions, deletions, duplications, and inversions.

HGVS is used because it provides a consistent and unambiguous way to describe genetic variations in the human genome. This is important for accurate communication of genetic information among healthcare professionals, researchers, and patients. The use of a standardized nomenclature also facilitates data sharing and comparison across different studies and databases.

Please note that our tool may not be able to translate all HGVS entries. This may be due to several factors, such as the complexity of the genetic variation, the lack of reference data for certain regions of the genome in our database, or errors in the input HGVS notation.

GeneBe HGVS conversion tool is unique, as we try to implement protein syntax conversion (:p.). This may not work in evey case though. Please let us know in case of any problems.