Linked Data
ClinVar Variation Id:
167821
dbSNP Id:
rs61749614
ExAC:
5:82833426 A / G
gnomAD v2:
5-82833426-A-G
gnomAD v3:
5-83537607-A-G
gnomAD v4:
5-83537607-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83537607A>G , CM000667.2:g.83537607A>G | GRCh38 |
| NC_000005.9:g.82833426A>G , CM000667.1:g.82833426A>G | GRCh37 |
| NC_000005.8:g.82869182A>G | NCBI36 |
| NG_012682.1:g.70897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265077.8:c.4604A>G (VCAN) MANE Select | ENSP00000265077.3:p.Glu1535Gly | |
| ENST00000265077.7:c.4604A>G (VCAN) | ENSP00000265077.3:p.Glu1535Gly | |
| ENST00000342785.8:c.4004-7930A>G (VCAN) | ENSP00000342768.4:n.4004-7930A>G | |
| ENST00000343200.9:c.1643A>G (VCAN) | ENSP00000340062.5:p.Glu548Gly | |
| ENST00000502527.2:c.1043-7930A>G (VCAN) | ENSP00000421362.2:n.1043-7930A>G | |
| ENST00000512590.6:c.3860-7930A>G (VCAN) | ENSP00000425959.2:n.3860-7930A>G | |
| ENST00000513016.5:n.1994A>G (VCAN) | ||
| ENST00000513960.5:c.1643A>G (VCAN) | ENSP00000426251.1:p.Glu548Gly | |
| NM_001126336.2:c.1043-7930A>G (VCAN) | NP_001119808.1:n.1043-7930A>G | |
| NM_001164097.1:c.1643A>G (VCAN) | NP_001157569.1:p.Glu548Gly | |
| NM_001164098.1:c.4004-7930A>G (VCAN) | NP_001157570.1:n.4004-7930A>G | |
| NM_004385.4:c.4604A>G (VCAN) | NP_004376.2:p.Glu1535Gly | |
| XM_011543776.1:c.161-3425T>C (VCAN-AS1) | XP_011542078.1:n.161-3425T>C | |
| XM_011543777.1:c.161-3434T>C (VCAN-AS1) | XP_011542079.1:n.161-3434T>C | |
| XM_011543778.1:c.161-3425T>C (VCAN-AS1) | XP_011542080.1:n.161-3425T>C | |
| XM_011543779.1:c.161-3425T>C (VCAN-AS1) | XP_011542081.1:n.161-3425T>C | |
| XM_011543780.1:c.13-3434T>C (VCAN-AS1) | XP_011542082.1:n.13-3434T>C | |
| XM_011543781.1:c.161-3425T>C (VCAN-AS1) | XP_011542083.1:n.161-3425T>C | |
| XM_011543782.1:c.161-3425T>C (VCAN-AS1) | XP_011542084.1:n.161-3425T>C | |
| XR_948512.1:n.471-3425T>C (VCAN-AS1) | ||
| XR_948513.1:n.471-3434T>C (VCAN-AS1) | ||
| XR_948514.1:n.471-3425T>C (VCAN-AS1) | ||
| XR_948515.1:n.471-3434T>C (VCAN-AS1) | ||
| XR_948516.1:n.471-3434T>C (VCAN-AS1) | ||
| NR_136215.1:n.285-3434T>C (VCAN-AS1) | ||
| NM_004385.5:c.4604A>G (VCAN) MANE Select | NP_004376.2:p.Glu1535Gly | |
| NM_001126336.3:c.1043-7930A>G (VCAN) | NP_001119808.1:n.1043-7930A>G | |
| NM_001164097.2:c.1643A>G (VCAN) | NP_001157569.1:p.Glu548Gly | |
| NM_001164098.2:c.4004-7930A>G (VCAN) | NP_001157570.1:n.4004-7930A>G |