View COL4A5 gene homepage

General information
Gene symbol COL4A5
Gene name collagen type IV alpha 5 chain
Chromosome X
Chromosomal band q22
Imprinted Not imprinted
Genomic reference NG_011977.1
Transcript reference NM_000495.4, NM_033380.2, XM_005262070.2, XM_005262072.3, XM_006724616.2, XM_011530849.1, XM_011530850.1, XM_011530851.1
Associated with diseases ATS
Citation reference(s) -
Curators (3) Anastasia Raoukka, Carsten W Lederer and Savvas Nikolaou
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated June 23, 2016
Version COL4A5:160623

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 2207
Entrez Gene 1287
PubMed articles COL4A5
OMIM - Gene 303630
OMIM - Diseases ATS (Alport syndrome)
HGMD COL4A5
GeneCards COL4A5
GeneTests COL4A5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000024 X collagen, type IV, alpha 5, transcript variant 1 NM_000495.4 NP_000486.1 1
00000025 X collagen, type IV, alpha 5, transcript variant 2 NM_033380.2 NP_203699.1 0
00000026 X collagen, type IV, alpha 5, transcript variant X1 XM_006724616.2 XP_006724679.1 0
00000027 X collagen, type IV, alpha 5, transcript variant X2 XM_005262070.2 XP_005262127.1 0
00000028 X collagen, type IV, alpha 5, transcript variant X3 XM_011530849.1 XP_011529151.1 0
00000029 X collagen, type IV, alpha 5, transcript variant X4 XM_011530850.1 XP_011529152.1 0
00000030 X collagen, type IV, alpha 5, transcript variant X5 XM_005262072.3 XP_005262129.1 0
00000031 X collagen, type IV, alpha 5, transcript variant X6 XM_011530851.1 XP_011529153.1 0


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