COL11A1 gene homepage

General information
Gene symbol COL11A1
Gene name collagen, type XI, alpha 1
Chromosome 1
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_008033.1
Transcript reference NM_001190709.1, NM_080629.2
Associated with diseases FBCG-1, IDD, MRSHS, STL-2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 352
Unique public DNA variants reported 252
Individuals with public variants 203
Hidden variants 42
Date created May 03, 2013
Date last updated August 06, 2020
Version COL11A1:200806

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 2186
Entrez Gene 1301
PubMed articles COL11A1
OMIM - Gene 120280
OMIM - Diseases FBCG-1 (fibrochondrogenesis, type 1 (FBCG-1))
IDD (intervertebral disc disease (IDD))
MRSHS (Marshall syndrome (MRSHS))
STL-2 (Stickler syndrome, type II (STL-2))

Active transcripts




NCBI ID     

NCBI Protein ID     

00023834 1 transcript variant E NM_001190709.1 NP_001177638.1 347
00024026 1 transcript variant B NM_080629.2 NP_542196.2 282

Copyright & disclaimer
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