Linked Data
ClinVar Variation Id:
317350
ClinVar RCV Id:
RCV000359297
dbSNP Id:
rs147767277
ExAC:
15:90171923 G / C
gnomAD v2:
15-90171923-G-C
gnomAD v3:
15-89628692-G-C
gnomAD v4:
15-89628692-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628692G>C , CM000677.2:g.89628692G>C | GRCh38 |
| NC_000015.9:g.90171923G>C , CM000677.1:g.90171923G>C | GRCh37 |
| NC_000015.8:g.87972927G>C | NCBI36 |
| NG_030338.1:g.31760C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3882C>G (KIF7) | ENSP00000512678.1:p.Pro1294= | |
| ENST00000394412.8:c.3759C>G (KIF7) MANE Select | ENSP00000377934.3:p.Pro1253= | |
| ENST00000677187.1:n.1433C>G (KIF7) | ||
| ENST00000394412.7:c.3759C>G (KIF7) | ENSP00000377934.3:p.Pro1253= | |
| ENST00000558928.1:n.89C>G (KIF7) | ||
| ENST00000561095.1:c.741-738G>C (TICRR) | ||
| NM_198525.2:c.3759C>G (KIF7) | NP_940927.2:p.Pro1253= | |
| XM_005254902.2:c.3759C>G (KIF7) | XP_005254959.1:p.Pro1253= | |
| XM_011521531.1:c.3882C>G (KIF7) | XP_011519833.1:p.Pro1294= | |
| XM_011521532.1:c.3879C>G (KIF7) | XP_011519834.1:p.Pro1293= | |
| XM_011521533.1:c.3879C>G (KIF7) | XP_011519835.1:p.Pro1293= | |
| XM_011521534.1:c.3882C>G (KIF7) | XP_011519836.1:p.Pro1294= | |
| XM_011521535.1:c.3882C>G (KIF7) | XP_011519837.1:p.Pro1294= | |
| XM_011521536.1:c.3882C>G (KIF7) | XP_011519838.1:p.Pro1294= | |
| XM_011521531.2:c.3882C>G (KIF7) | XP_011519833.1:p.Pro1294= | |
| NM_198525.3:c.3759C>G (KIF7) MANE Select | NP_940927.2:p.Pro1253= |