Gene
COL7A1
collagen type VII alpha 1 chain
- HGNC 2214(opens in a new tab)
- Ensembl gene ENSG00000114270(opens in a new tab)
- NCBI Gene 1294(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.31
- Coordinates
- Chromosome 3: 48,564,073–48,595,329 (GRCh38)
- Exons
- 119 exons across 31.3 kb
- Protein
- 2,944 amino acids
- Previous symbols
- EBDCT, EBD1, EBR1
- MANE Select transcript
- ENST00000681320.1NM_000094.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epidermolysis Bullosa
- Inherited epidermolysis bullosa
All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.
How COL7A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 9.2 kb of the gene's 31.3 kb; 8,835 of those bases code for the protein.
How a genome test reads COL7A1
720
positions in COL7A1 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 31.3 kb of COL7A1, introns included, not only the 9.2 kb of exons.
Traits linked to COL7A1
The Human Phenotype Ontology lists these as features of the rare conditions COL7A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal blistering of the skin
- Itching
- Poor nail formation
- Sub-lamina densa cleavage
- Sunken or indented skin due to damage
- Atypical scarring of skin
- Brittle nails
- Fragile skin
Show 47 more traits
- Generalized abnormality of skin
- Localized skin lesion
- Milk spot
- Pretibial blistering
- Thick nail
- Abnormal fingernails
- Abnormal subungual morphology
- Abnormality of the toenail
- Absent nails
- Acral blistering
- Chronic cutaneous wound
- Erythematous plaque
- Genital blistering
- Irregular hyperpigmentation
- Keloids
- Lichenification
- Overgrowth and curving of fingernail
- Overgrowth and curving of toenails
- Photosensitive skin
- Poikiloderma
- Poor fingernail formation
- Poor toenail formation
- Skin degeneration
- Skin erosion
- Skin plaque
- Squamous cell carcinoma
- Thin skin
- Absence of part of skin at birth
- Absent fingernail
- Absent toenail
- Atypical nail growth
- Cutaneous melanoma
- Erythematous papule
- Firm lump under the skin
- Hyperkeratosis
- Hyperkeratotic papule
- Lamina lucida cleavage
- Mole
- Papule
- Recurrent loss of toenails and fingernails
- Skin vesicle
- Small nail
- Abnormal skin pigmentation
- Abnormal skin structure
- Basal cell carcinoma
- Congenital localized absence of skin
- Hair loss
Abnormality of limbs
- Mitten deformity
- Abnormality of the elbow
- Abnormality of the lower limb
- Abnormality of the wrist
- Palmoplantar blistering
- Thickening of the outer layer of the skin of the palms and soles
- Abnormality of the forearm
- Abnormality of the knee
Show 2 more traits
Abnormality of head or neck
- Oral mucosal blisters
- Dental cavities
- Abnormality of the scalp
- Erosion of oral mucosa
- Abnormality of head or neck
- Narrow mouth
- Tongue tied
- Pink eye
Show 1 more trait
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). COL7A1 gene: collagen type VII alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col7a1
Dante Labs. COL7A1 gene: collagen type VII alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col7a1
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