gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31860873 (EAS)
Genomes Max Group AF
0.31860873 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83509605C>T , CM000667.2:g.83509605C>T | GRCh38 |
| NC_000005.9:g.82805424C>T , CM000667.1:g.82805424C>T | GRCh37 |
| NC_000005.8:g.82841180C>T | NCBI36 |
| NG_012682.1:g.42895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265077.8:c.749-2498C>T (VCAN) MANE Select | ENSP00000265077.3:n.749-2498C>T | |
| ENST00000265077.7:c.749-2498C>T (VCAN) | ENSP00000265077.3:n.749-2498C>T | |
| ENST00000342785.8:c.749-2498C>T (VCAN) | ENSP00000342768.4:n.749-2498C>T | |
| ENST00000343200.9:c.749-2498C>T (VCAN) | ENSP00000340062.5:n.749-2498C>T | |
| ENST00000502527.2:c.749-2498C>T (VCAN) | ENSP00000421362.2:n.749-2498C>T | |
| ENST00000512590.6:c.605-2498C>T (VCAN) | ENSP00000425959.2:n.605-2498C>T | |
| ENST00000513960.5:c.749-2498C>T (VCAN) | ENSP00000426251.1:n.749-2498C>T | |
| ENST00000513984.5:c.749-2498C>T (VCAN) | ENSP00000426715.1:n.749-2498C>T | |
| NM_001126336.2:c.749-2498C>T (VCAN) | NP_001119808.1:n.749-2498C>T | |
| NM_001164097.1:c.749-2498C>T (VCAN) | NP_001157569.1:n.749-2498C>T | |
| NM_001164098.1:c.749-2498C>T (VCAN) | NP_001157570.1:n.749-2498C>T | |
| NM_004385.4:c.749-2498C>T (VCAN) | NP_004376.2:n.749-2498C>T | |
| XM_011543776.1:c.*147G>A (VCAN-AS1) | XP_011542078.1:n.*147G>A | |
| XM_011543777.1:c.*147G>A (VCAN-AS1) | XP_011542079.1:n.*147G>A | |
| XM_011543780.1:c.*147G>A (VCAN-AS1) | XP_011542082.1:n.*147G>A | |
| XM_011543781.1:c.*304G>A (VCAN-AS1) | XP_011542083.1:n.*304G>A | |
| NM_004385.5:c.749-2498C>T (VCAN) MANE Select | NP_004376.2:n.749-2498C>T | |
| NM_001126336.3:c.749-2498C>T (VCAN) | NP_001119808.1:n.749-2498C>T | |
| NM_001164097.2:c.749-2498C>T (VCAN) | NP_001157569.1:n.749-2498C>T | |
| NM_001164098.2:c.749-2498C>T (VCAN) | NP_001157570.1:n.749-2498C>T |