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Gene

FH

fumarate hydratase

Summary

Cytogenetic location
1q43
Coordinates
Chromosome 1: 241,497,603–241,519,755 (GRCh38)
Exons
10 exons across 22.2 kb
Protein
510 amino acids
Inheritance
Autosomal dominant
Also known as
FUM
MANE Select transcript
ENST00000366560.4NM_000143.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Leiomyomatosis and Renal Cell Cancer

    • Hereditary leiomyomatosis and renal cell cancer (FH tumour predisposition)Autosomal dominant

      FH variants causing cutaneous and uterine leiomyomas and a risk of type 2 papillary renal cell carcinoma.

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

      Annual kidney MRI, usually from childhood or adolescence, allows early detection and surgery; relatives can be offered testing.

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 FH 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 FH sits. FH and 8 genes near it on chromosome 1, from 241,008,679 to 242,008,678.Chromosome 11q43p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44241.2 Mb241.4 Mb241.6 Mb241.8 Mb242 MbRGS7: 240,767,636–241,357,374, reverse strandRGS7FH: 241,497,603–241,519,755, reverse strandFHKMO: 241,531,876–241,595,643, forward strandKMOOPN3: 241,587,775–241,677,376, reverse strandOPN3CHML: 241,628,851–241,640,399, reverse strandCHMLWDR64: 241,652,278–241,802,777, forward strandWDR64EXO1: 241,847,967–241,895,148, forward strandEXO1BECN2: 241,957,767–241,959,062, forward strandBECN2MAP1LC3C: 241,995,188–242,001,584, reverse strandMAP1LC3CDiagram of FH: 10 exons on the reverse strand of chromosome 1Exon 10: 26 known disease-causing sitesExon 9: 27 known disease-causing sitesExon 8: 29 known disease-causing sitesExon 7: 57 known disease-causing sitesExon 6: 34 known disease-causing sitesExon 5: 42 known disease-causing sitesExon 4: 34 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 2: 28 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 10: 241,497,603–241,497,970, 368 basesExon 9: 241,500,437–241,500,590, 154 basesExon 8: 241,502,443–241,502,570, 128 basesExon 7: 241,504,042–241,504,245, 204 basesExon 6: 241,506,003–241,506,168, 166 basesExon 5: 241,508,603–241,508,785, 183 basesExon 4: 241,511,967–241,512,143, 177 basesExon 3: 241,513,603–241,513,713, 111 basesExon 2: 241,517,182–241,517,316, 135 basesExon 1: 241,519,591–241,519,755, 165 bases109876543215′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 1.8 kb of the gene's 22.2 kb; 1,533 of those bases code for the protein.

How a genome test reads FH

347

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

9 of them (2.6%) fall in regions short reads find hard.

  • Low mappability (9 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 22.2 kb of FH, introns included, not only the 1.8 kb of exons.

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.). FH gene: fumarate hydratase. Retrieved 16 October 2026, from https://dantelabs.com/genes/fh

Vancouver

Dante Labs. FH gene: fumarate hydratase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fh

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