The COL4A4 gene homepage

General information
Gene symbol COL4A4
Gene name collagen, type IV, alpha 4
Chromosome 2
Chromosomal band q35-q37
Imprinted Not imprinted
Genomic reference LRG_231
Transcript reference NM_000092.4
Exon/intron information NM_000092.4 exon/intron table
Associated with diseases ATS2, BFH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Judy Savige
Total number of public variants reported 1126
Unique public DNA variants reported 608
Individuals with public variants 943
Hidden variants 16
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 COL4A4:231127

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_000092.4.
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_231t1

UK Alport genetic testing of COL4A4, COL4A3 and COL4A5
HGNC 2206
Entrez Gene 1286
PubMed articles COL4A4
OMIM - Gene 120131
OMIM - Diseases ATS2 (Alport syndrome, autosomal recessive)
GeneCards COL4A4
GeneTests COL4A4
Orphanet COL4A4

Active transcripts




NCBI ID     

NCBI Protein ID     

00005465 2 collagen, type IV, alpha 4 NM_000092.4 NP_000083.3 1126

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