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Gene

CFH

complement factor H

Summary

Cytogenetic location
1q31.3
Coordinates
Chromosome 1: 196,652,043–196,747,504 (GRCh38)
Exons
22 exons across 95.5 kb
Protein
1,231 amino acids
Inheritance
Autosomal dominant
Also known as
HUS, FHL1, ARMS1, ARMD4
Previous symbols
HF, HF1, HF2
MANE Select transcript
ENST00000367429.9NM_000186.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Age-Related Macular Degeneration

    • Basal Laminar DrusenAutosomal dominant

      An early-onset form of drusen, often linked to changes in CFH, that can resemble and progress like age-related macular degeneration.

      • 1 GenCC submitter rates it definitive or strong

  • Hemolytic Uremic Syndrome, Interstitial Nephritis

    • Atypical Hemolytic Uremic Syndrome Susceptibility (CFH)Autosomal dominant

      Variants in CFH increase the risk of atypical hemolytic uremic syndrome, often triggered by infection or pregnancy, with incomplete penetrance.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing allows rapid recognition and treatment with complement inhibitors and informs kidney transplant planning.

    • Complement 3 Glomerulopathy

      A kidney disease, including C3 glomerulonephritis and dense deposit disease, caused by uncontrolled activation of the complement system, often involving CFH, CFHR5, C3 or CFI.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides kidney monitoring and consideration of complement-targeted treatment.

    • Atypical Hemolytic-Uremic SyndromeAutosomal dominant

      A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Hemolytic-Uremic Syndrome

      Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Hereditary Hemolytic Uremic Syndrome
      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CFH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where CFH sits. CFH and 10 genes near it on chromosome 1, from 196,199,774 to 197,199,773.Chromosome 11q31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44196.2 Mb196.4 Mb196.6 Mb196.8 Mb197 MbKCNT2: 196,225,779–196,609,225, reverse strandKCNT2: 196,651,852–196,795,393, forward strandCFH: 196,652,043–196,747,504, forward strandCFHCFHR3: 196,774,742–196,803,130, forward strandCFHR3CFHR1: 196,819,314–196,837,159, forward strandCFHR1CFHR4: 196,888,014–196,920,294, forward strandCFHR4CFHR2: 196,943,731–196,964,408, forward strandCFHR2CFHR5: 196,975,010–197,009,678, forward strandCFHR5F13B: 197,038,737–197,067,267, reverse strandF13BASPM: 197,084,121–197,146,699, reverse strandASPMZBTB41: 197,153,682–197,201,449, reverse strandZBTB41Diagram of CFH: 22 exons on the forward strand of chromosome 1Exon 1: 4 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 13 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 17: 12 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 19: 8 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 21: 15 known disease-causing sitesExon 22: 26 known disease-causing sitesExon 1: 196,652,043–196,652,175, 133 basesExon 2: 196,672,978–196,673,163, 186 basesExon 3: 196,673,857–196,673,962, 106 basesExon 4: 196,675,989–196,676,065, 77 basesExon 5: 196,677,476–196,677,667, 192 basesExon 6: 196,679,623–196,679,793, 171 basesExon 7: 196,685,064–196,685,237, 174 basesExon 8: 196,689,420–196,689,614, 195 basesExon 9: 196,690,063–196,690,239, 177 basesExon 10: 196,713,735–196,713,917, 183 basesExon 11: 196,715,593–196,715,769, 177 basesExon 12: 196,725,121–196,725,297, 177 basesExon 13: 196,726,470–196,726,652, 183 basesExon 14: 196,726,761–196,726,940, 180 basesExon 15: 196,728,346–196,728,522, 177 basesExon 16: 196,736,824–196,737,006, 183 basesExon 17: 196,737,475–196,737,660, 186 basesExon 18: 196,740,619–196,740,792, 174 basesExon 19: 196,741,875–196,742,051, 177 basesExon 20: 196,743,452–196,743,628, 177 basesExon 21: 196,745,817–196,745,999, 183 basesExon 22: 196,747,111–196,747,504, 394 bases15101520225′3′

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 4 kb of the gene's 95.5 kb; 3,696 of those bases code for the protein.

How a genome test reads CFH

214

positions in CFH where ClinVar classes a change as pathogenic or likely pathogenic

73 of them (34%) fall in regions short reads find hard.

  • Low mappability (42 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (73 sites)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 95.5 kb of CFH, introns included, not only the 4 kb of exons.

Genes linked to the same conditions

Traits linked to CFH

The Human Phenotype Ontology lists these as features of the rare conditions CFH can cause. Each trait's page lists the other genes linked to it.

External links

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). CFH gene: complement factor H. Retrieved 17 October 2026, from https://dantelabs.com/genes/cfh

Vancouver

Dante Labs. CFH gene: complement factor H [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cfh

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