Gene
COL4A1
collagen type IV alpha 1 chain
- HGNC 2202(opens in a new tab)
- Ensembl gene ENSG00000187498(opens in a new tab)
- NCBI Gene 1282(opens in a new tab)
Summary
- Cytogenetic location
- 13q34
- Coordinates
- Chromosome 13: 110,148,963–110,307,157 (GRCh38)
- Exons
- 52 exons across 158.2 kb
- Protein
- 1,669 amino acids
- MANE Select transcript
- ENST00000375820.10NM_001845.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads COL4A1 yet. The test sequences your whole genome, so your data includes it all the same.
How COL4A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 6.5 kb of the gene's 158.2 kb; 5,010 of those bases code for the protein.
How a genome test reads COL4A1
192
positions in COL4A1 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 158.2 kb of COL4A1, introns included, not only the 6.5 kb of exons.
Traits linked to COL4A1
The Human Phenotype Ontology lists these as features of the rare conditions COL4A1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Hyperintensity of cerebral white matter on MRI
- Leukoencephalopathy
- Abnormal cerebellar vermis morphology
- Abnormal cortical gyration
- Abnormality of neuronal migration
- Absent reflexes
- Cavity within brain
- Decreased reflex response
Show 29 more traits
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Global developmental delay
- Intellectual disability
- More grooves in brain
- Small cerebellum
- Specific learning disability
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Abnormal periventricular white matter morphology
- Absent septum pellucidum
- Agenesis of corpus callosum
- Balance impairment
- Cognitive impairment
- Migraine with aura
- Weakness of one side of body
- Babinski sign
- Dementia
- Dystonia
- Epilepsy
- Paralysis on one side of body
- Seizure affecting one half of brain
- Cortical dysplasia
- Degeneration of cerebellum
- Focal cortical dysplasia
- Limb dystonia
- Migraine
- Schizencephaly
- Tetraparesis
Abnormality of the eye
- Breakdown of light-sensitive cells in back of eye
- Chorioretinal dysplasia
- Optic atrophy
- Optic nerve issue
- Retinal detachment
- Retinal dysplasia
- Abnormally small eyeball
- Absence of eyeballs
Show 22 more traits
- Corneal opacity
- Extreme sensitivity of the eyes to light
- Glaucoma
- Cat eye
- Clouding of the lens of the eye
- Cornea of eye less than 10mm in diameter
- Ocular anterior segment dysgenesis
- Astigmatism
- Clouding of the lens of the eye at birth
- Decreased clarity of vision
- Displaced pupil
- Farsightedness
- Multiple pupils
- New blood vessel formation in cornea
- Peripapillary atrophy
- Underdeveloped iris
- Blurred vision
- Close sighted
- Fundus hypopigmentation
- Lazy eye
- Outward facing eye ball
- Partial loss of field of vision
Abnormality of head or neck
- Retinal arteriolar tortuosity
- Big calvaria
- Dandy-Walker malformation
- Retinal arterial tortuosity
- Abnormally small head
- Bifid uvula
- Cleft palate
- Submucous cleft hard palate
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.
- 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.). COL4A1 gene: collagen type IV alpha 1 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col4a1
Dante Labs. COL4A1 gene: collagen type IV alpha 1 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col4a1
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