Linked Data
ClinVar Variation Id:
1915581
ClinVar RCV Id:
RCV002601592
dbSNP Id:
rs750002097
ExAC:
15:90171816 G / T
gnomAD v2:
15-90171816-G-T
gnomAD v3:
15-89628585-G-T
gnomAD v4:
15-89628585-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89628585G>T , CM000677.2:g.89628585G>T | GRCh38 |
| NC_000015.9:g.90171816G>T , CM000677.1:g.90171816G>T | GRCh37 |
| NC_000015.8:g.87972820G>T | NCBI36 |
| NG_030338.1:g.31867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3989C>A (KIF7) | ENSP00000512678.1:p.Ser1330Tyr | |
| ENST00000394412.8:c.3866C>A (KIF7) MANE Select | ENSP00000377934.3:p.Ser1289Tyr | |
| ENST00000677187.1:n.1540C>A (KIF7) | ||
| ENST00000394412.7:c.3866C>A (KIF7) | ENSP00000377934.3:p.Ser1289Tyr | |
| ENST00000558928.1:n.180+16C>A (KIF7) | ||
| ENST00000561095.1:c.741-845G>T (TICRR) | ||
| NM_198525.2:c.3866C>A (KIF7) | NP_940927.2:p.Ser1289Tyr | |
| XM_005254902.2:c.3866C>A (KIF7) | XP_005254959.1:p.Ser1289Tyr | |
| XM_011521531.1:c.3989C>A (KIF7) | XP_011519833.1:p.Ser1330Tyr | |
| XM_011521532.1:c.3986C>A (KIF7) | XP_011519834.1:p.Ser1329Tyr | |
| XM_011521533.1:c.3986C>A (KIF7) | XP_011519835.1:p.Ser1329Tyr | |
| XM_011521534.1:c.3973+16C>A (KIF7) | XP_011519836.1:n.3973+16C>A | |
| XM_011521535.1:c.3973+16C>A (KIF7) | XP_011519837.1:n.3973+16C>A | |
| XM_011521536.1:c.3973+16C>A (KIF7) | XP_011519838.1:n.3973+16C>A | |
| XM_011521531.2:c.3989C>A (KIF7) | XP_011519833.1:p.Ser1330Tyr | |
| NM_198525.3:c.3866C>A (KIF7) MANE Select | NP_940927.2:p.Ser1289Tyr |