Linked Data
ClinVar Variation Id:
217670
ClinVar RCV Id:
RCV000201533
dbSNP Id:
rs778139192
gnomAD v2:
15-90172792-G-A
gnomAD v3:
15-89629561-G-A
gnomAD v4:
15-89629561-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89629561G>A , CM000677.2:g.89629561G>A | GRCh38 |
| NC_000015.9:g.90172792G>A , CM000677.1:g.90172792G>A | GRCh37 |
| NC_000015.8:g.87973796G>A | NCBI36 |
| NG_030338.1:g.30891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.3454C>T (KIF7) | ENSP00000512678.1:p.Arg1152Ter | |
| ENST00000394412.8:c.3331C>T (KIF7) MANE Select | ENSP00000377934.3:p.Arg1111Ter | |
| ENST00000677187.1:n.1005C>T (KIF7) | ||
| ENST00000394412.7:c.3331C>T (KIF7) | ENSP00000377934.3:p.Arg1111Ter | |
| ENST00000561095.1:c.872G>A (TICRR) | ||
| NM_198525.2:c.3331C>T (KIF7) | NP_940927.2:p.Arg1111Ter | |
| XM_005254902.2:c.3331C>T (KIF7) | XP_005254959.1:p.Arg1111Ter | |
| XM_011521531.1:c.3454C>T (KIF7) | XP_011519833.1:p.Arg1152Ter | |
| XM_011521532.1:c.3451C>T (KIF7) | XP_011519834.1:p.Arg1151Ter | |
| XM_011521533.1:c.3451C>T (KIF7) | XP_011519835.1:p.Arg1151Ter | |
| XM_011521534.1:c.3454C>T (KIF7) | XP_011519836.1:p.Arg1152Ter | |
| XM_011521535.1:c.3454C>T (KIF7) | XP_011519837.1:p.Arg1152Ter | |
| XM_011521536.1:c.3454C>T (KIF7) | XP_011519838.1:p.Arg1152Ter | |
| XM_011521531.2:c.3454C>T (KIF7) | XP_011519833.1:p.Arg1152Ter | |
| NM_198525.3:c.3331C>T (KIF7) MANE Select | NP_940927.2:p.Arg1111Ter |