Linked Data
ClinVar Variation Id:
1529274
dbSNP Id:
rs776674506
ExAC:
15:90171740 C / G
gnomAD v2:
15-90171740-C-G
gnomAD v3:
15-89628509-C-G
gnomAD v4:
15-89628509-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628509C>G , CM000677.2:g.89628509C>G | GRCh38 |
| NC_000015.9:g.90171740C>G , CM000677.1:g.90171740C>G | GRCh37 |
| NC_000015.8:g.87972744C>G | NCBI36 |
| NG_030338.1:g.31943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.4065G>C (KIF7) | ENSP00000512678.1:p.Leu1355= | |
| ENST00000394412.8:c.3942G>C (KIF7) MANE Select | ENSP00000377934.3:p.Leu1314= | |
| ENST00000677187.1:n.1616G>C (KIF7) | ||
| ENST00000394412.7:c.3942G>C (KIF7) | ENSP00000377934.3:p.Leu1314= | |
| ENST00000558928.1:n.180+92G>C (KIF7) | ||
| ENST00000561095.1:c.741-921C>G (TICRR) | ||
| NM_198525.2:c.3942G>C (KIF7) | NP_940927.2:p.Leu1314= | |
| XM_005254902.2:c.3942G>C (KIF7) | XP_005254959.1:p.Leu1314= | |
| XM_011521531.1:c.4065G>C (KIF7) | XP_011519833.1:p.Leu1355= | |
| XM_011521532.1:c.4062G>C (KIF7) | XP_011519834.1:p.Leu1354= | |
| XM_011521533.1:c.4062G>C (KIF7) | XP_011519835.1:p.Leu1354= | |
| XM_011521534.1:c.3973+92G>C (KIF7) | XP_011519836.1:n.3973+92G>C | |
| XM_011521535.1:c.3973+92G>C (KIF7) | XP_011519837.1:n.3973+92G>C | |
| XM_011521536.1:c.3973+92G>C (KIF7) | XP_011519838.1:n.3973+92G>C | |
| XM_011521531.2:c.4065G>C (KIF7) | XP_011519833.1:p.Leu1355= | |
| NM_198525.3:c.3942G>C (KIF7) MANE Select | NP_940927.2:p.Leu1314= |