Linked Data
ClinVar Variation Id:
263153
dbSNP Id:
rs141028210
ExAC:
15:90171722 A / T
gnomAD v2:
15-90171722-A-T
gnomAD v3:
15-89628491-A-T
gnomAD v4:
15-89628491-A-T
MyVariant Identifiers:
chr15:g.90171722A>T (hg19)
chr15:g.90171722_90171723delinsTG (hg19)
chr15:g.89628491A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628491A>T , CM000677.2:g.89628491A>T | GRCh38 |
| NC_000015.9:g.90171722A>T , CM000677.1:g.90171722A>T | GRCh37 |
| NC_000015.8:g.87972726A>T | NCBI36 |
| NG_030338.1:g.31961T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.4083T>A (KIF7) | ENSP00000512678.1:p.Pro1361= | |
| ENST00000394412.8:c.3960T>A (KIF7) MANE Select | ENSP00000377934.3:p.Pro1320= | |
| ENST00000677187.1:n.1634T>A (KIF7) | ||
| ENST00000394412.7:c.3960T>A (KIF7) | ENSP00000377934.3:p.Pro1320= | |
| ENST00000558928.1:n.180+110T>A (KIF7) | ||
| ENST00000561095.1:c.741-939A>T (TICRR) | ||
| NM_198525.2:c.3960T>A (KIF7) | NP_940927.2:p.Pro1320= | |
| XM_005254902.2:c.3960T>A (KIF7) | XP_005254959.1:p.Pro1320= | |
| XM_011521531.1:c.4083T>A (KIF7) | XP_011519833.1:p.Pro1361= | |
| XM_011521532.1:c.4080T>A (KIF7) | XP_011519834.1:p.Pro1360= | |
| XM_011521533.1:c.4080T>A (KIF7) | XP_011519835.1:p.Pro1360= | |
| XM_011521534.1:c.3973+110T>A (KIF7) | XP_011519836.1:n.3973+110T>A | |
| XM_011521535.1:c.3973+110T>A (KIF7) | XP_011519837.1:n.3973+110T>A | |
| XM_011521536.1:c.3973+110T>A (KIF7) | XP_011519838.1:n.3973+110T>A | |
| XM_011521531.2:c.4083T>A (KIF7) | XP_011519833.1:p.Pro1361= | |
| NM_198525.3:c.3960T>A (KIF7) MANE Select | NP_940927.2:p.Pro1320= |