Linked Data
ClinVar Variation Id:
1014341
ClinVar RCV Id:
RCV001313065
dbSNP Id:
rs754341930
ExAC:
15:90171871 C / T
gnomAD v2:
15-90171871-C-T
gnomAD v3:
15-89628640-C-T
gnomAD v4:
15-89628640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628640C>T , CM000677.2:g.89628640C>T | GRCh38 |
| NC_000015.9:g.90171871C>T , CM000677.1:g.90171871C>T | GRCh37 |
| NC_000015.8:g.87972875C>T | NCBI36 |
| NG_030338.1:g.31812G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3934G>A (KIF7) | ENSP00000512678.1:p.Ala1312Thr | |
| ENST00000394412.8:c.3811G>A (KIF7) MANE Select | ENSP00000377934.3:p.Ala1271Thr | |
| ENST00000677187.1:n.1485G>A (KIF7) | ||
| ENST00000394412.7:c.3811G>A (KIF7) | ENSP00000377934.3:p.Ala1271Thr | |
| ENST00000558928.1:n.141G>A (KIF7) | ||
| ENST00000561095.1:c.741-790C>T (TICRR) | ||
| NM_198525.2:c.3811G>A (KIF7) | NP_940927.2:p.Ala1271Thr | |
| XM_005254902.2:c.3811G>A (KIF7) | XP_005254959.1:p.Ala1271Thr | |
| XM_011521531.1:c.3934G>A (KIF7) | XP_011519833.1:p.Ala1312Thr | |
| XM_011521532.1:c.3931G>A (KIF7) | XP_011519834.1:p.Ala1311Thr | |
| XM_011521533.1:c.3931G>A (KIF7) | XP_011519835.1:p.Ala1311Thr | |
| XM_011521534.1:c.3934G>A (KIF7) | XP_011519836.1:p.Ala1312Thr | |
| XM_011521535.1:c.3934G>A (KIF7) | XP_011519837.1:p.Ala1312Thr | |
| XM_011521536.1:c.3934G>A (KIF7) | XP_011519838.1:p.Ala1312Thr | |
| XM_011521531.2:c.3934G>A (KIF7) | XP_011519833.1:p.Ala1312Thr | |
| NM_198525.3:c.3811G>A (KIF7) MANE Select | NP_940927.2:p.Ala1271Thr |