Linked Data
ClinVar Variation Id:
2049595
ClinVar RCV Id:
RCV002914096
dbSNP Id:
rs202214398
ExAC:
15:90171696 C / G
gnomAD v2:
15-90171696-C-G
gnomAD v4:
15-89628465-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628465C>G , CM000677.2:g.89628465C>G | GRCh38 |
| NC_000015.9:g.90171696C>G , CM000677.1:g.90171696C>G | GRCh37 |
| NC_000015.8:g.87972700C>G | NCBI36 |
| NG_030338.1:g.31987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.4109G>C (KIF7) | ENSP00000512678.1:p.Arg1370Pro | |
| ENST00000394412.8:c.3986G>C (KIF7) MANE Select | ENSP00000377934.3:p.Arg1329Pro | |
| ENST00000677187.1:n.1660G>C (KIF7) | ||
| ENST00000394412.7:c.3986G>C (KIF7) | ENSP00000377934.3:p.Arg1329Pro | |
| ENST00000558928.1:n.180+136G>C (KIF7) | ||
| ENST00000561095.1:c.741-965C>G (TICRR) | ||
| NM_198525.2:c.3986G>C (KIF7) | NP_940927.2:p.Arg1329Pro | |
| XM_005254902.2:c.3986G>C (KIF7) | XP_005254959.1:p.Arg1329Pro | |
| XM_011521531.1:c.4109G>C (KIF7) | XP_011519833.1:p.Arg1370Pro | |
| XM_011521532.1:c.4106G>C (KIF7) | XP_011519834.1:p.Arg1369Pro | |
| XM_011521533.1:c.4106G>C (KIF7) | XP_011519835.1:p.Arg1369Pro | |
| XM_011521534.1:c.3973+136G>C (KIF7) | XP_011519836.1:n.3973+136G>C | |
| XM_011521535.1:c.3973+136G>C (KIF7) | XP_011519837.1:n.3973+136G>C | |
| XM_011521536.1:c.3973+136G>C (KIF7) | XP_011519838.1:n.3973+136G>C | |
| XM_011521531.2:c.4109G>C (KIF7) | XP_011519833.1:p.Arg1370Pro | |
| NM_198525.3:c.3986G>C (KIF7) MANE Select | NP_940927.2:p.Arg1329Pro |