Variantid

Variantid is a term used in genomics and bioinformatics to denote a stable, unique identifier assigned to a genetic variant across data resources and analysis pipelines. It serves as a canonical key that enables unambiguous reference to a variant, even when different databases or studies use varying naming conventions.

In practice, a Variantid is intended to map to multiple nomenclatures for the same variant, such as rsIDs in dbSNP, HGVS descriptions, or coordinate-based references tied to a specific genome build. A Variantid typically includes metadata about the variant, including the genomic build (for example GRCh38), chromosome, position, reference allele, and alternate allele, and may be linked to cross-reference databases. The goal is to support reproducible analysis, data integration, and cross-study comparisons by providing a persistent reference point.

Variantid can be implemented in various parts of the data workflow, including database schemas, variant catalogs, and file formats used in variant calling, annotation, and association studies. In formats analogous to VCF, the Variantid may reside in an ID field or in a linked metadata record, with versioning to reflect updates or corrections. Challenges include ensuring build consistency, managing merges and splits of variants, and maintaining stable mappings as external resources evolve.

Related concepts include rsID, dbSNP, HGVS, and persistent identifiers used in bioinformatics data management. While not universally standardized, Variantid represents a design principle aimed at improving data interoperability and reproducibility in genomic research.