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Gene

HIF1A

hypoxia inducible factor 1 subunit alpha

Summary

Cytogenetic location
14q23.2
Coordinates
Chromosome 14: 61,695,513–61,748,258 (GRCh38)
Exons
15 exons across 52.7 kb
Protein
826 amino acids
Also known as
MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78
MANE Select transcript
ENST00000337138.9NM_001530.4
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.

Trait report that reads HIF1A

How HIF1A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where HIF1A sits. HIF1A and 7 genes near it on chromosome 14, from 61,221,886 to 62,221,885.Chromosome 1414q23.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3361.4 Mb61.6 Mb61.8 Mb62 Mb62.2 MbPRKCH: 61,187,559–61,550,980, forward strandPRKCHCDC50B: 61,277,370–61,281,761, reverse strandCDC50B: 61,321,954–61,322,034, forward strand: 61,529,128–61,657,964, forward strandHIF1A: 61,695,513–61,748,258, forward strandHIF1ASNAPC1: 61,762,319–61,796,443, forward strandSNAPC1SYT16: 61,811,849–62,112,550, forward strandSYT16: 62,075,340–62,128,421, forward strandDiagram of HIF1A: 15 exons on the forward strand of chromosome 14Exon 2: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 1: 61,695,513–61,695,839, 327 basesExon 2: 61,720,382–61,720,572, 191 basesExon 3: 61,721,509–61,721,654, 146 basesExon 4: 61,721,739–61,721,823, 85 basesExon 5: 61,726,706–61,726,818, 113 basesExon 6: 61,727,453–61,727,655, 203 basesExon 7: 61,732,418–61,732,524, 107 basesExon 8: 61,734,138–61,734,285, 148 basesExon 9: 61,736,889–61,737,109, 221 basesExon 10: 61,738,087–61,738,373, 287 basesExon 11: 61,740,505–61,740,627, 123 basesExon 12: 61,740,755–61,741,188, 434 basesExon 13: 61,744,705–61,744,813, 109 basesExon 14: 61,745,691–61,745,817, 127 basesExon 15: 61,746,934–61,748,258, 1,325 bases12468101214155′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 3.9 kb of the gene's 52.7 kb; 2,481 of those bases code for the protein.

How a genome test reads HIF1A

7

positions in HIF1A 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 52.7 kb of HIF1A, introns included, not only the 3.9 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.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). HIF1A gene: hypoxia inducible factor 1 subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/hif1a

Vancouver

Dante Labs. HIF1A gene: hypoxia inducible factor 1 subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hif1a

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