Gene
CFHR3
complement factor H related 3
- HGNC 16980↗(opens in a new tab)
- Ensembl gene ENSG00000116785↗(opens in a new tab)
- NCBI Gene 10878↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q31.3
- Coordinates
- Chromosome 1: 196,774,840–196,795,407 (GRCh38)
- Exons
- 6 exons across 20.6 kb
- Protein
- 330 amino acids
- Also known as
- FHR-3, HLF4, FHR3, DOWN16
- Previous symbols
- CFHL3
- MANE Select transcript
- ENST00000367425.9NM_021023.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads CFHR3 yet. The test sequences your whole genome, so your data includes it all the same.
How CFHR3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 20.6 kb; 993 of those bases code for the protein.
How a genome test reads CFHR3
1
position in CFHR3 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (100%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 20.6 kb of CFHR3, introns included, not only the 2.9 kb of exons.
Traits linked to CFHR3
The Human Phenotype Ontology lists these as features of the rare conditions CFHR3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CFHR3 gene: complement factor H related 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/cfhr3
Dante Labs. CFHR3 gene: complement factor H related 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cfhr3
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