Intergenic variants

Promoter and enhancer variants outside of the transcript of a gene cannot be represented using transcript-based HGVS notation. Instead, the accession number of the chromosome (in HG38) and the corresponding genomic HGVS nomenclature should be provided.

For instance, NC_000019.10:g.12887294G>A is a promoter variant upstream of the KLF1 gene.