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 ASAR, BFH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Judy Savige
Total number of public variants reported 950
Unique public DNA variants reported 527
Individuals with public variants 769
Hidden variants 12
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 August 06, 2020
Version COL4A4:200806

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 ASAR (syndrome, Alport, autosomal dominant (ASAR))
GeneCards COL4A4
GeneTests COL4A4

Active transcripts




NCBI ID     

NCBI Protein ID     

00005465 2 collagen, type IV, alpha 4 NM_000092.4 NP_000083.3 950

Copyright & disclaimer
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