Linked Data
ClinVar Variation Id:
408144
ClinVar RCV Id:
RCV000462200
dbSNP Id:
rs745495865
ExAC:
11:22647355 A / C
gnomAD v2:
11-22647355-A-C
gnomAD v3:
11-22625809-A-C
gnomAD v4:
11-22625809-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625809A>C , CM000673.2:g.22625809A>C | GRCh38 |
| NC_000011.9:g.22647355A>C , CM000673.1:g.22647355A>C | GRCh37 |
| NC_000011.8:g.22603931A>C | NCBI36 |
| NG_007425.1:g.5033T>G , LRG_527:g.5033T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.2T>G (FANCF) MANE Select | ENSP00000330875.3:p.Met1Arg | |
| ENST00000648096.1:n.301A>C (GAS2) | ||
| ENST00000327470.4:c.2T>G (FANCF) | ENSP00000330875.3:p.Met1Arg | |
| ENST00000528582.5:c.-25A>C (GAS2) | ENSP00000432584.1:n.-25A>C | |
| NM_022725.3:c.2T>G , LRG_527t1:c.2T>G (FANCF) | NP_073562.1:p.Met1Arg | |
| NM_022725.4:c.2T>G (FANCF) MANE Select | NP_073562.1:p.Met1Arg |