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Gene

F8

coagulation factor VIII

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 154,835,792–155,022,723 (GRCh38)
Exons
26 exons across 186.9 kb
Protein
2,351 amino acids
Inheritance
X-linked recessive
Also known as
FVIII, DXS1253E, HEMA
Previous symbols
F8C
MANE Select transcript
ENST00000360256.9NM_000132.4
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

  • Haemophilia

    • HemophiliaX-linked recessive

      A group of bleeding disorders caused by deficiency of coagulation factor VIII (haemophilia A) or factor IX (haemophilia B).

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

      Factor replacement therapy, extended half-life factor products, emicizumab (bispecific antibody), immune tolerance therapy

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How F8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome X, with a bracket where F8 sits. F8 and 30 genes near it on chromosome X, from 154,429,258 to 155,429,257.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28154.6 Mb154.8 Mb155 Mb155.2 Mb155.4 MbATP6AP1: 154,428,618–154,436,517, forward strandGDI1: 154,436,600–154,443,467, forward strandFAM50A: 154,444,103–154,450,655, forward strandPLXNA3: 154,458,275–154,477,779, forward strandLAGE3: 154,477,598–154,479,291, reverse strandLAGE3UBL4A: 154,483,717–154,486,661, reverse strandUBL4ASLC10A3: 154,487,306–154,490,690, reverse strandSLC10A3FAM3A: 154,505,019–154,516,882, reverse strandFAM3AG6PD: 154,517,825–154,547,584, reverse strandG6PDIKBKG: 154,541,179–154,568,543, forward strandIKBKGCTAG1A: 154,585,133–154,586,816, forward strandCTAG1ACTAG1B: 154,617,609–154,619,282, reverse strandCTAG1BCTAG2: 154,651,972–154,653,579, reverse strandCTAG2GAB3: 154,675,249–154,751,583, reverse strandGAB3DKC1: 154,762,741–154,777,697, forward strandDKC1MPP1: 154,778,684–154,821,039, reverse strandMPP1SMIM9: 154,823,348–154,834,662, reverse strandSMIM9F8: 154,835,792–155,022,723, reverse strandF8H2AB1: 154,884,972–154,885,558, forward strandH2AB1F8A1: 154,886,355–154,888,061, forward strandF8A1FUNDC2: 155,025,980–155,065,641, forward strandFUNDC2CMC4: 155,060,021–155,071,303, reverse strandCMC4: 155,061,622–155,065,519, reverse strandMTCP1: 155,064,034–155,147,937, reverse strandBRCC3: 155,071,416–155,128,969, forward strandBRCC3VBP1: 155,197,007–155,239,841, forward strandVBP1RAB39B: 155,258,235–155,264,531, reverse strandRAB39BCLIC2: 155,272,944–155,334,824, reverse strandCLIC2H2AB2: 155,380,709–155,381,299, forward strandH2AB2F8A2: 155,382,095–155,383,801, forward strandF8A2TMLHE: 155,414,745–155,719,107, reverse strandTMLHEDiagram of F8: 26 exons on the reverse strand of chromosome XExon 26: 16 known disease-causing sitesExon 25: 4 known disease-causing sitesExon 24: 15 known disease-causing sitesExon 23: 16 known disease-causing sitesExon 22: 9 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 19: 12 known disease-causing sitesExon 18: 16 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 16 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 71 known disease-causing sitesExon 13: 14 known disease-causing sitesExon 12: 10 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 8: 21 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 26: 154,835,792–154,837,752, 1,961 bases. 4 variants with a page in exon 26. List themExon 25: 154,860,432–154,860,608, 177 bases. 2 variants with a page in exon 25. List themExon 24: 154,861,718–154,861,866, 149 bases. 3 variants with a page in exon 24. List themExon 23: 154,863,083–154,863,227, 145 bases. 1 variant with a page in exon 23. List themExon 22: 154,896,077–154,896,232, 156 bases. 1 variant with a page in exon 22. List themExon 21: 154,899,866–154,899,951, 86 basesExon 20: 154,901,371–154,901,442, 72 basesExon 19: 154,902,051–154,902,167, 117 bases. 1 variant with a page in exon 19. List themExon 18: 154,903,906–154,904,088, 183 bases. 1 variant with a page in exon 18. List themExon 17: 154,904,296–154,904,524, 229 basesExon 16: 154,904,811–154,905,023, 213 bases. 2 variants with a page in exon 16. List themExon 15: 154,906,420–154,906,573, 154 bases. 1 variant with a page in exon 15. List themExon 14: 154,928,571–154,931,676, 3,106 bases. 6 variants with a page in exon 14. List themExon 13: 154,947,698–154,947,907, 210 bases. 1 variant with a page in exon 13. List themExon 12: 154,953,892–154,954,042, 151 bases. 4 variants with a page in exon 12. List themExon 11: 154,956,957–154,957,171, 215 bases. 3 variants with a page in exon 11. List themExon 10: 154,961,075–154,961,168, 94 basesExon 9: 154,965,970–154,966,141, 172 bases. 5 variants with a page in exon 9. List themExon 8: 154,966,426–154,966,687, 262 bases. 6 variants with a page in exon 8. List themExon 7: 154,969,331–154,969,552, 222 bases. 6 variants with a page in exon 7. List themExon 6: 154,984,687–154,984,803, 117 bases. 2 variants with a page in exon 6. List themExon 5: 154,987,237–154,987,305, 69 basesExon 4: 154,992,936–154,993,148, 213 bases. 2 variants with a page in exon 4. List themExon 3: 154,996,973–154,997,095, 123 bases. 2 variants with a page in exon 3. List themExon 2: 154,999,479–154,999,600, 122 basesExon 1: 155,022,410–155,022,723, 314 bases2625201510515′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 9 kb of the gene's 186.9 kb; 7,056 of those bases code for the protein.

How a genome test reads F8

384

positions in F8 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 186.9 kb of F8, introns included, not only the 9 kb of exons.

Variants with a page (54)

The F8 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A111Tc.331G>AExon 3154,997,030Likely pathogenic3 stars out of 4 reviewed by expert panel
A415Dc.1244C>AExon 8154,966,453Likely pathogenic3 stars out of 4 reviewed by expert panel
A415Vc.1244C>TExon 8154,966,453Pathogenic3 stars out of 4 reviewed by expert panel
A2220Pc.6658G>CExon 24154,861,783Pathogenic3 stars out of 4 reviewed by expert panel
c.1420G>CExon 9154,965,993Likely pathogenic3 stars out of 4 reviewed by expert panel
c.5217C>TExon 14154,928,573Likely pathogenic3 stars out of 4 reviewed by expert panel
c.6429+2T>AIntron 22154,896,075Pathogenic3 stars out of 4 reviewed by expert panel
C2345Rc.7033T>CExon 26154,837,620Likely pathogenic3 stars out of 4 reviewed by expert panel
E200Gc.599A>GExon 4154,992,938Pathogenic3 stars out of 4 reviewed by expert panel
E739Kc.2215G>AExon 14154,931,575Pathogenic3 stars out of 4 reviewed by expert panel

See all 54 F8 variants →

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.). F8 gene: coagulation factor VIII. Retrieved 16 October 2026, from https://dantelabs.com/genes/f8

Vancouver

Dante Labs. F8 gene: coagulation factor VIII [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/f8

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