Linked Data
ClinVar Variation Id:
1906542
ClinVar RCV Id:
RCV002586989
dbSNP Id:
rs767858278
ExAC:
11:22647163 T / G
gnomAD v2:
11-22647163-T-G
gnomAD v4:
11-22625617-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625617T>G , CM000673.2:g.22625617T>G | GRCh38 |
| NC_000011.9:g.22647163T>G , CM000673.1:g.22647163T>G | GRCh37 |
| NC_000011.8:g.22603739T>G | NCBI36 |
| NG_007425.1:g.5225A>C , LRG_527:g.5225A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.194A>C (FANCF) MANE Select | ENSP00000330875.3:p.Gln65Pro | |
| ENST00000648096.1:n.109T>G (GAS2) | ||
| ENST00000327470.4:c.194A>C (FANCF) | ENSP00000330875.3:p.Gln65Pro | |
| NM_022725.3:c.194A>C , LRG_527t1:c.194A>C (FANCF) | NP_073562.1:p.Gln65Pro | |
| NM_022725.4:c.194A>C (FANCF) MANE Select | NP_073562.1:p.Gln65Pro |