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Gene

NEFH

neurofilament heavy chain

Summary

Cytogenetic location
22q12.2
Coordinates
Chromosome 22: 29,480,218–29,491,390 (GRCh38)
Exons
4 exons across 11.2 kb
Protein
1,020 amino acids
Also known as
NF-H, NFH
MANE Select transcript
ENST00000310624.7NM_021076.4
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

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How NEFH is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where NEFH sits. NEFH and 18 genes near it on chromosome 22, from 28,985,804 to 29,985,803.Chromosome 2222q12.2p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3329 Mb29.2 Mb29.4 Mb29.6 Mb29.8 MbZNRF3: 28,883,537–29,057,488, forward strandZNRF3C22orf31: 29,058,672–29,061,831, reverse strandC22orf31KREMEN1: 29,072,937–29,168,333, forward strandKREMEN1EMID1: 29,205,809–29,259,598, forward strandEMID1RHBDD3: 29,259,850–29,268,221, reverse strandRHBDD3EWSR1: 29,268,009–29,300,530, forward strandEWSR1GAS2L1: 29,306,394–29,312,787, forward strandGAS2L1RASL10A: 29,312,933–29,319,679, reverse strandRASL10AAP1B1: 29,327,680–29,388,612, reverse strandAP1B1RFPL1: 29,438,583–29,442,455, forward strandRFPL1NEFH: 29,480,218–29,491,390, forward strandNEFHTHOC5: 29,505,879–29,555,216, reverse strandTHOC5NIPSNAP1: 29,554,806–29,581,327, reverse strandNIPSNAP1NF2: 29,603,520–29,698,598, forward strandNF2CABP7: 29,719,998–29,731,833, forward strandCABP7ZMAT5: 29,728,138–29,767,084, reverse strandZMAT5UQCR10: 29,767,352–29,770,413, forward strandUQCR10ASCC2: 29,788,044–29,838,304, reverse strandASCC2MTMR3: 29,883,141–30,030,868, forward strandMTMR3Diagram of NEFH: 4 exons on the forward strand of chromosome 22Exon 1: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 1: 29,480,218–29,481,145, 928 basesExon 2: 29,483,375–29,483,574, 200 basesExon 3: 29,485,723–29,485,847, 125 basesExon 4: 29,488,849–29,491,390, 2,542 bases12345′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 3.8 kb of the gene's 11.2 kb; 3,063 of those bases code for the protein.

    How a genome test reads NEFH

    5

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

    4 of them (80%) fall in regions short reads find hard.

    • Segmental duplications (4 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 11.2 kb of NEFH, introns included, not only the 3.8 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.). NEFH gene: neurofilament heavy chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/nefh

    Vancouver

    Dante Labs. NEFH gene: neurofilament heavy chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nefh

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