The COL4A3 gene homepage

General information
Gene symbol COL4A3
Gene name collagen, type IV, alpha 3 (Goodpasture antigen)
Chromosome 2
Chromosomal band q36-q37
Imprinted Not imprinted
Genomic reference LRG_230
Transcript reference NM_000091.4
Exon/intron information NM_000091.4 exon/intron table
Associated with diseases ATS2, ATS3, BFH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Judy Savige
Total number of public variants reported 1094
Unique public DNA variants reported 622
Individuals with public variants 1069
Hidden variants 10
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created August 31, 2010
Date last updated November 27, 2023
Version COL4A3:231127

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_000091.4.
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 LRG_230t1

UK Alport genetic testing of COL4A3, COL4A4, COL4A5
HGNC 2204
Entrez Gene 1285
PubMed articles COL4A3
OMIM - Gene 120070
OMIM - Diseases ATS2 (Alport syndrome, autosomal recessive)
ATS3 (Alport syndrome, autosomal dominant)
GeneCards COL4A3
GeneTests COL4A3
Orphanet COL4A3

Active transcripts




NCBI ID     

NCBI Protein ID     

00005463 2 collagen, type IV, alpha 3 (Goodpasture antigen) NM_000091.4 NP_000082.2 1094

Copyright & disclaimer
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