Linked Data
ClinVar Variation Id:
354398
dbSNP Id:
rs143368552
ExAC:
5:82815648 T / A
gnomAD v2:
5-82815648-T-A
gnomAD v3:
5-83519829-T-A
gnomAD v4:
5-83519829-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83519829T>A , CM000667.2:g.83519829T>A | GRCh38 |
| NC_000005.9:g.82815648T>A , CM000667.1:g.82815648T>A | GRCh37 |
| NC_000005.8:g.82851404T>A | NCBI36 |
| NG_012682.1:g.53119T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265077.8:c.1523T>A (VCAN) MANE Select | ENSP00000265077.3:p.Ile508Asn | |
| ENST00000265077.7:c.1523T>A (VCAN) | ENSP00000265077.3:p.Ile508Asn | |
| ENST00000342785.8:c.1523T>A (VCAN) | ENSP00000342768.4:p.Ile508Asn | |
| ENST00000343200.9:c.1042+7433T>A (VCAN) | ENSP00000340062.5:n.1042+7433T>A | |
| ENST00000502527.2:c.1042+7433T>A (VCAN) | ENSP00000421362.2:n.1042+7433T>A | |
| ENST00000512590.6:c.1379T>A (VCAN) | ENSP00000425959.2:p.Ile460Asn | |
| ENST00000513960.5:c.1042+7433T>A (VCAN) | ENSP00000426251.1:n.1042+7433T>A | |
| ENST00000515397.1:n.295+7433T>A (VCAN) | ||
| NM_001126336.2:c.1042+7433T>A (VCAN) | NP_001119808.1:n.1042+7433T>A | |
| NM_001164097.1:c.1042+7433T>A (VCAN) | NP_001157569.1:n.1042+7433T>A | |
| NM_001164098.1:c.1523T>A (VCAN) | NP_001157570.1:p.Ile508Asn | |
| NM_004385.4:c.1523T>A (VCAN) | NP_004376.2:p.Ile508Asn | |
| XM_011543776.1:c.454-6173A>T (VCAN-AS1) | XP_011542078.1:n.454-6173A>T | |
| XM_011543777.1:c.445-6173A>T (VCAN-AS1) | XP_011542079.1:n.445-6173A>T | |
| XM_011543778.1:c.454-6173A>T (VCAN-AS1) | XP_011542080.1:n.454-6173A>T | |
| XM_011543779.1:c.481+3614A>T (VCAN-AS1) | XP_011542081.1:n.481+3614A>T | |
| XM_011543780.1:c.250-6173A>T (VCAN-AS1) | XP_011542082.1:n.250-6173A>T | |
| XM_011543781.1:c.453+7397A>T (VCAN-AS1) | XP_011542083.1:n.453+7397A>T | |
| XM_011543782.1:c.319+3614A>T (VCAN-AS1) | XP_011542084.1:n.319+3614A>T | |
| XR_948512.1:n.838+3614A>T (VCAN-AS1) | ||
| XR_948513.1:n.7593-115A>T (VCAN-AS1) | ||
| XR_948514.1:n.7602-115A>T (VCAN-AS1) | ||
| XR_948515.1:n.4911-115A>T (VCAN-AS1) | ||
| XR_948516.1:n.3657-115A>T (VCAN-AS1) | ||
| XR_948517.1:n.94-115A>T (VCAN-AS1) | ||
| NM_004385.5:c.1523T>A (VCAN) MANE Select | NP_004376.2:p.Ile508Asn | |
| NM_001126336.3:c.1042+7433T>A (VCAN) | NP_001119808.1:n.1042+7433T>A | |
| NM_001164097.2:c.1042+7433T>A (VCAN) | NP_001157569.1:n.1042+7433T>A | |
| NM_001164098.2:c.1523T>A (VCAN) | NP_001157570.1:p.Ile508Asn |