Linked Data
ClinVar Variation Id:
320168
ClinVar RCV Id:
RCV000357401
dbSNP Id:
rs147591659
ExAC:
16:67197688 G / A
gnomAD v2:
16-67197688-G-A
gnomAD v3:
16-67163785-G-A
gnomAD v4:
16-67163785-G-A
COSMIC:
COSM1718850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67163785G>A , CM000678.2:g.67163785G>A | GRCh38 |
| NC_000016.9:g.67197688G>A , CM000678.1:g.67197688G>A | GRCh37 |
| NC_000016.8:g.65755189G>A | NCBI36 |
| NG_009294.1:g.5401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258200.8:c.1090G>A (FBXL8) MANE Select | ENSP00000258200.3:p.Glu364Lys | |
| ENST00000258200.7:c.1090G>A (FBXL8) | ENSP00000258200.3:p.Glu364Lys | |
| ENST00000517382.5:c.153-234G>A (FBXL8) | ENSP00000430745.1:n.153-234G>A | |
| ENST00000518227.1:c.78G>A | ||
| ENST00000518753.5:c.102G>A | ||
| ENST00000519917.5:c.1090G>A (FBXL8) | ENSP00000430490.1:p.Glu364Lys | |
| ENST00000519945.5:c.*222G>A (FBXL8) | ENSP00000429684.1:n.*222G>A | |
| ENST00000580114.5:c.401G>A | ||
| NM_001040667.2:c.-565G>A (HSF4) | NP_001035757.1:n.-565G>A | |
| NM_001538.3:c.-565G>A (HSF4) | NP_001529.2:n.-565G>A | |
| NM_018378.2:c.1090G>A (FBXL8) | NP_060848.2:p.Glu364Lys | |
| NM_018378.3:c.1090G>A (FBXL8) MANE Select | NP_060848.2:p.Glu364Lys | |
| NM_001040667.3:c.-565G>A (HSF4) | NP_001035757.1:n.-565G>A | |
| NM_001538.4:c.-565G>A (HSF4) | NP_001529.2:n.-565G>A |