The COL4A1 gene homepage

General information
Gene symbol COL4A1
Gene name collagen, type IV, alpha 1
Chromosome 13
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_011544.2
Transcript reference NM_001845.4
Exon/intron information NM_001845.4 exon/intron table
Associated with diseases BSVD1, HANAC, ICH, ID, RATOR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Jacopo Celli, Janneke Weiss and Alessandra Maugeri
Total number of public variants reported 291
Unique public DNA variants reported 209
Individuals with public variants 76
Hidden variants 43
Download all this gene's data Download all data
Date created January 18, 2011
Date last updated October 20, 2020
Version COL4A1:201020

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001845.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 2202
Entrez Gene 1282
PubMed articles COL4A1
OMIM - Gene 120130
OMIM - Diseases BSVD1 (POREN1)
HANAC (angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC))
ICH (hemorrhage, intracerebral, susceptibility to (ICH))
RATOR (tortuosity, arteries, retinal (RATOR))
GeneCards COL4A1
GeneTests COL4A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001443 13 collagen, type IV, alpha 1 NM_001845.4 NP_001836.2 291

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.