Linked Data
dbSNP Id:
rs765603940
gnomAD v2:
11-22647257-C-T
gnomAD v3:
11-22625711-C-T
gnomAD v4:
11-22625711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625711C>T , CM000673.2:g.22625711C>T | GRCh38 |
| NC_000011.9:g.22647257C>T , CM000673.1:g.22647257C>T | GRCh37 |
| NC_000011.8:g.22603833C>T | NCBI36 |
| NG_007425.1:g.5131G>A , LRG_527:g.5131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.100G>A (FANCF) MANE Select | ENSP00000330875.3:p.Ala34Thr | |
| ENST00000648096.1:n.203C>T (GAS2) | ||
| ENST00000327470.4:c.100G>A (FANCF) | ENSP00000330875.3:p.Ala34Thr | |
| ENST00000528582.5:c.-123C>T (GAS2) | ENSP00000432584.1:n.-123C>T | |
| NM_022725.3:c.100G>A , LRG_527t1:c.100G>A (FANCF) | NP_073562.1:p.Ala34Thr | |
| NM_022725.4:c.100G>A (FANCF) MANE Select | NP_073562.1:p.Ala34Thr |