Linked Data
ClinVar Variation Id:
1919975
ClinVar RCV Id:
RCV002604022
dbSNP Id:
rs2133798673
gnomAD v4:
11-22625713-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625713C>G , CM000673.2:g.22625713C>G | GRCh38 |
| NC_000011.9:g.22647259C>G , CM000673.1:g.22647259C>G | GRCh37 |
| NC_000011.8:g.22603835C>G | NCBI36 |
| NG_007425.1:g.5129G>C , LRG_527:g.5129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.98G>C (FANCF) MANE Select | ENSP00000330875.3:p.Arg33Pro | |
| ENST00000648096.1:n.205C>G (GAS2) | ||
| ENST00000327470.4:c.98G>C (FANCF) | ENSP00000330875.3:p.Arg33Pro | |
| ENST00000528582.5:c.-121C>G (GAS2) | ENSP00000432584.1:n.-121C>G | |
| NM_022725.3:c.98G>C , LRG_527t1:c.98G>C (FANCF) | NP_073562.1:p.Arg33Pro | |
| NM_022725.4:c.98G>C (FANCF) MANE Select | NP_073562.1:p.Arg33Pro |