Linked Data
ClinVar Variation Id:
531996
ClinVar RCV Id:
RCV000638552
dbSNP Id:
rs537735484
ExAC:
15:90171714 T / C
gnomAD v2:
15-90171714-T-C
gnomAD v3:
15-89628483-T-C
gnomAD v4:
15-89628483-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628483T>C , CM000677.2:g.89628483T>C | GRCh38 |
| NC_000015.9:g.90171714T>C , CM000677.1:g.90171714T>C | GRCh37 |
| NC_000015.8:g.87972718T>C | NCBI36 |
| NG_030338.1:g.31969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.4091A>G (KIF7) | ENSP00000512678.1:p.Lys1364Arg | |
| ENST00000394412.8:c.3968A>G (KIF7) MANE Select | ENSP00000377934.3:p.Lys1323Arg | |
| ENST00000677187.1:n.1642A>G (KIF7) | ||
| ENST00000394412.7:c.3968A>G (KIF7) | ENSP00000377934.3:p.Lys1323Arg | |
| ENST00000558928.1:n.180+118A>G (KIF7) | ||
| ENST00000561095.1:c.741-947T>C (TICRR) | ||
| NM_198525.2:c.3968A>G (KIF7) | NP_940927.2:p.Lys1323Arg | |
| XM_005254902.2:c.3968A>G (KIF7) | XP_005254959.1:p.Lys1323Arg | |
| XM_011521531.1:c.4091A>G (KIF7) | XP_011519833.1:p.Lys1364Arg | |
| XM_011521532.1:c.4088A>G (KIF7) | XP_011519834.1:p.Lys1363Arg | |
| XM_011521533.1:c.4088A>G (KIF7) | XP_011519835.1:p.Lys1363Arg | |
| XM_011521534.1:c.3973+118A>G (KIF7) | XP_011519836.1:n.3973+118A>G | |
| XM_011521535.1:c.3973+118A>G (KIF7) | XP_011519837.1:n.3973+118A>G | |
| XM_011521536.1:c.3973+118A>G (KIF7) | XP_011519838.1:n.3973+118A>G | |
| XM_011521531.2:c.4091A>G (KIF7) | XP_011519833.1:p.Lys1364Arg | |
| NM_198525.3:c.3968A>G (KIF7) MANE Select | NP_940927.2:p.Lys1323Arg |