Linked Data
dbSNP Id:
rs186066542
gnomAD v2:
5-82811385-A-C
gnomAD v3:
5-83515566-A-C
gnomAD v4:
5-83515566-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83515566A>C , CM000667.2:g.83515566A>C | GRCh38 |
| NC_000005.9:g.82811385A>C , CM000667.1:g.82811385A>C | GRCh37 |
| NC_000005.8:g.82847141A>C | NCBI36 |
| NG_012682.1:g.48856A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265077.8:c.1042+3170A>C (VCAN) MANE Select | ENSP00000265077.3:n.1042+3170A>C | |
| ENST00000265077.7:c.1042+3170A>C (VCAN) | ENSP00000265077.3:n.1042+3170A>C | |
| ENST00000342785.8:c.1042+3170A>C (VCAN) | ENSP00000342768.4:n.1042+3170A>C | |
| ENST00000343200.9:c.1042+3170A>C (VCAN) | ENSP00000340062.5:n.1042+3170A>C | |
| ENST00000502527.2:c.1042+3170A>C (VCAN) | ENSP00000421362.2:n.1042+3170A>C | |
| ENST00000512590.6:c.898+3170A>C (VCAN) | ENSP00000425959.2:n.898+3170A>C | |
| ENST00000513960.5:c.1042+3170A>C (VCAN) | ENSP00000426251.1:n.1042+3170A>C | |
| ENST00000515397.1:n.295+3170A>C (VCAN) | ||
| NM_001126336.2:c.1042+3170A>C (VCAN) | NP_001119808.1:n.1042+3170A>C | |
| NM_001164097.1:c.1042+3170A>C (VCAN) | NP_001157569.1:n.1042+3170A>C | |
| NM_001164098.1:c.1042+3170A>C (VCAN) | NP_001157570.1:n.1042+3170A>C | |
| NM_004385.4:c.1042+3170A>C (VCAN) | NP_004376.2:n.1042+3170A>C | |
| XM_011543776.1:c.454-1910T>G (VCAN-AS1) | XP_011542078.1:n.454-1910T>G | |
| XM_011543777.1:c.445-1910T>G (VCAN-AS1) | XP_011542079.1:n.445-1910T>G | |
| XM_011543778.1:c.454-1910T>G (VCAN-AS1) | XP_011542080.1:n.454-1910T>G | |
| XM_011543779.1:c.482-1910T>G (VCAN-AS1) | XP_011542081.1:n.482-1910T>G | |
| XM_011543780.1:c.250-1910T>G (VCAN-AS1) | XP_011542082.1:n.250-1910T>G | |
| XM_011543781.1:c.454-5646T>G (VCAN-AS1) | XP_011542083.1:n.454-5646T>G | |
| XM_011543782.1:c.320-1910T>G (VCAN-AS1) | XP_011542084.1:n.320-1910T>G | |
| XR_948512.1:n.839-1910T>G (VCAN-AS1) | ||
| XR_948517.1:n.181-1910T>G (VCAN-AS1) | ||
| NM_004385.5:c.1042+3170A>C (VCAN) MANE Select | NP_004376.2:n.1042+3170A>C | |
| NM_001126336.3:c.1042+3170A>C (VCAN) | NP_001119808.1:n.1042+3170A>C | |
| NM_001164097.2:c.1042+3170A>C (VCAN) | NP_001157569.1:n.1042+3170A>C | |
| NM_001164098.2:c.1042+3170A>C (VCAN) | NP_001157570.1:n.1042+3170A>C |