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Gene

NOTCH1

notch receptor 1

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 136,494,433–136,546,048 (GRCh38)
Exons
34 exons across 51.6 kb
Protein
2,555 amino acids
Inheritance
Autosomal dominant
Previous symbols
TAN1
MANE Select transcript
ENST00000651671.1NM_017617.5
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

  • Inherited Congenital Heart Defects

    • NOTCH1-Related Heart DiseaseAutosomal dominant

      A range of heart conditions caused by changes in NOTCH1, including bicuspid aortic valve, left-sided heart defects and Adams-Oliver syndrome.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

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 NOTCH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where NOTCH1 sits. NOTCH1 and 40 genes near it on chromosome 9, from 136,020,241 to 137,020,240.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3136.2 Mb136.4 Mb136.6 Mb136.8 Mb137 MbNACC2: 136,006,537–136,095,327, reverse strandNACC2TMEM250: 136,113,067–136,118,946, reverse strandTMEM250LHX3: 136,196,250–136,205,128, reverse strandLHX3QSOX2: 136,206,332–136,245,831, reverse strandQSOX2CCDC187: 136,249,973–136,306,901, reverse strandCCDC187GPSM1: 136,327,425–136,359,608, forward strandDNLZ: 136,359,480–136,363,773, reverse strand: 136,361,904–136,373,644, reverse strandCARD9: 136,363,956–136,373,683, reverse strandCARD9SNAPC4: 136,375,567–136,400,226, reverse strandSNAPC4ENTR1: 136,401,922–136,410,621, reverse strandENTR1PMPCA: 136,410,630–136,428,006, forward strandPMPCAINPP5E: 136,428,615–136,439,882, reverse strandINPP5ESEC16A: 136,440,096–136,483,843, reverse strandSEC16ANOTCH1: 136,494,433–136,546,048, reverse strandNOTCH1EGFL7: 136,658,284–136,672,684, forward strandEGFL7AGPAT2: 136,673,142–136,687,483, reverse strandAGPAT2DIPK1B: 136,712,302–136,724,742, forward strandDIPK1BLCN10: 136,738,167–136,743,356, reverse strandLCN10: 136,738,167–136,748,453, reverse strandLCN6: 136,744,017–136,748,531, reverse strandLCN6LCN8: 136,754,386–136,758,543, reverse strandLCN15: 136,759,634–136,766,255, reverse strandTMEM141: 136,791,303–136,793,317, forward strandTMEM141: 136,791,379–136,800,595, forward strandCCDC183: 136,796,338–136,807,741, forward strandRABL6: 136,807,848–136,841,187, forward strandRABL6AJM1: 136,842,478–136,848,801, forward strandAJM1PHPT1: 136,847,994–136,851,043, forward strandPHPT1MAMDC4: 136,850,943–136,860,802, forward strandEDF1: 136,862,113–136,866,343, reverse strandTRAF2: 136,881,903–136,929,221, forward strandTRAF2FBXW5: 136,938,431–136,950,122, reverse strandFBXW5C8G: 136,942,532–136,946,980, forward strandC8GLCN12: 136,949,391–136,956,535, forward strandLCN12PTGDS: 136,975,053–136,981,750, forward strandPTGDS: 136,977,518–136,985,435, forward strandLCNL1: 136,981,904–136,986,410, forward strandPAXX: 136,992,400–136,994,074, forward strandCLIC3: 136,994,608–136,996,729, reverse strandABCA2: 137,007,226–137,028,915, reverse strandABCA2Diagram of NOTCH1: 34 exons on the reverse strand of chromosome 9Exon 34: 6 known disease-causing sitesExon 32: 3 known disease-causing sitesExon 31: 3 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 29: 1 known disease-causing siteExon 28: 3 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 7 known disease-causing sitesExon 25: 16 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 20: 5 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 5 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 34: 136,494,433–136,497,558, 3,126 basesExon 33: 136,498,899–136,498,996, 98 basesExon 32: 136,499,112–136,499,259, 148 basesExon 31: 136,500,552–136,500,847, 296 basesExon 30: 136,501,748–136,501,913, 166 basesExon 29: 136,502,001–136,502,088, 88 basesExon 28: 136,502,272–136,502,488, 217 basesExon 27: 136,503,182–136,503,330, 149 basesExon 26: 136,504,673–136,505,104, 432 basesExon 25: 136,505,310–136,505,881, 572 basesExon 24: 136,506,527–136,506,639, 113 basesExon 23: 136,506,716–136,506,973, 258 basesExon 22: 136,507,305–136,507,437, 133 basesExon 21: 136,507,955–136,508,139, 185 basesExon 20: 136,508,232–136,508,385, 154 basesExon 19: 136,508,870–136,509,071, 202 basesExon 18: 136,509,733–136,509,961, 229 basesExon 17: 136,510,653–136,510,805, 153 basesExon 16: 136,511,152–136,511,271, 120 basesExon 15: 136,513,021–136,513,134, 114 basesExon 14: 136,513,392–136,513,537, 146 basesExon 13: 136,514,510–136,514,702, 193 basesExon 12: 136,515,290–136,515,400, 111 basesExon 11: 136,515,483–136,515,716, 234 basesExon 10: 136,515,981–136,516,094, 114 basesExon 9: 136,517,272–136,517,385, 114 basesExon 8: 136,517,752–136,517,937, 186 basesExon 7: 136,518,137–136,518,292, 156 basesExon 6: 136,518,591–136,518,824, 234 basesExon 5: 136,519,443–136,519,565, 123 basesExon 4: 136,522,850–136,523,188, 339 basesExon 3: 136,523,717–136,523,979, 263 basesExon 2: 136,544,024–136,544,102, 79 basesExon 1: 136,545,726–136,546,048, 323 bases343025201510515′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 9.6 kb of the gene's 51.6 kb; 7,668 of those bases code for the protein.

How a genome test reads NOTCH1

110

positions in NOTCH1 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 51.6 kb of NOTCH1, introns included, not only the 9.6 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.). NOTCH1 gene: notch receptor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/notch1

Vancouver

Dante Labs. NOTCH1 gene: notch receptor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/notch1

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