Revel Score:
ENST00000251849 (MANE Select)
0.320
ENST00000442415
0.320
ENST00000432427
0.320
ENST00000534997
0.320
ENST00000542177
0.320
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584533G>A , CM000665.2:g.12584533G>A | GRCh38 |
| NC_000003.11:g.12626032G>A , CM000665.1:g.12626032G>A | GRCh37 |
| NC_000003.10:g.12601032G>A | NCBI36 |
| NG_007467.1:g.84647C>T , LRG_413:g.84647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1593C>T (RAF1) | ENSP00000401088.1:n.*1593C>T | |
| ENST00000432427.3:c.1245C>T (RAF1) | ||
| ENST00000460610.2:n.6240C>T (RAF1) | ||
| ENST00000471449.2:n.738C>T (RAF1) | ||
| ENST00000475353.2:n.4208C>T (RAF1) | ||
| ENST00000684903.1:c.*1605C>T (RAF1) | ENSP00000508612.1:n.*1605C>T | |
| ENST00000685348.1:c.*1639C>T (RAF1) | ENSP00000510285.1:n.*1639C>T | |
| ENST00000685437.1:c.1829C>T (RAF1) | ENSP00000508794.1:p.Pro610Leu | |
| ENST00000685653.1:c.1928C>T (RAF1) | ENSP00000509968.1:p.Pro643Leu | |
| ENST00000685697.1:n.2663C>T (RAF1) | ||
| ENST00000685738.1:c.*892C>T (RAF1) | ENSP00000510156.1:n.*892C>T | |
| ENST00000686409.1:n.5337C>T (RAF1) | ||
| ENST00000686455.1:n.4649C>T (RAF1) | ||
| ENST00000686762.1:c.*487C>T (RAF1) | ENSP00000509767.1:n.*487C>T | |
| ENST00000687257.1:n.4382C>T (RAF1) | ||
| ENST00000687326.1:c.*3220C>T (RAF1) | ENSP00000509665.1:n.*3220C>T | |
| ENST00000687505.1:n.2046C>T (RAF1) | ||
| ENST00000687923.1:c.1817C>T (RAF1) | ENSP00000510255.1:p.Pro606Leu | |
| ENST00000688269.1:n.2524C>T (RAF1) | ||
| ENST00000688444.1:n.4045C>T (RAF1) | ||
| ENST00000688543.1:c.1829C>T (RAF1) | ENSP00000509612.1:p.Pro610Leu | |
| ENST00000688625.1:c.*3297C>T (RAF1) | ENSP00000509522.1:n.*3297C>T | |
| ENST00000688803.1:n.3356C>T (RAF1) | ||
| ENST00000689097.1:c.*1605C>T (RAF1) | ENSP00000509756.1:n.*1605C>T | |
| ENST00000689389.1:c.1751C>T (RAF1) | ENSP00000510213.1:p.Pro584Leu | |
| ENST00000689418.1:c.*3823C>T (RAF1) | ENSP00000509467.1:n.*3823C>T | |
| ENST00000689540.1:n.4296C>T (RAF1) | ||
| ENST00000689876.1:c.*477C>T (RAF1) | ENSP00000508535.1:n.*477C>T | |
| ENST00000689914.1:c.*862C>T (RAF1) | ENSP00000509847.1:n.*862C>T | |
| ENST00000690397.1:c.1817C>T (RAF1) | ENSP00000508730.1:p.Pro606Leu | |
| ENST00000690460.1:c.1916C>T (RAF1) | ENSP00000509106.1:p.Pro639Leu | |
| ENST00000690585.1:c.654C>T (RAF1) | ||
| ENST00000690625.1:n.2964C>T (RAF1) | ||
| ENST00000691396.1:c.*1800C>T (RAF1) | ENSP00000510712.1:n.*1800C>T | |
| ENST00000691643.1:n.2981C>T (RAF1) | ||
| ENST00000691724.1:c.*885C>T (RAF1) | ENSP00000509255.1:n.*885C>T | |
| ENST00000691779.1:c.*1506C>T (RAF1) | ENSP00000508592.1:n.*1506C>T | |
| ENST00000691888.1:c.802C>T (RAF1) | ||
| ENST00000691899.1:c.1928C>T (RAF1) | ENSP00000508763.1:p.Pro643Leu | |
| ENST00000692069.1:n.4852C>T (RAF1) | ||
| ENST00000692093.1:c.1829C>T (RAF1) | ENSP00000509669.1:p.Pro610Leu | |
| ENST00000692311.1:n.2752C>T (RAF1) | ||
| ENST00000692558.1:n.4511C>T (RAF1) | ||
| ENST00000692773.1:c.*1665C>T (RAF1) | ENSP00000509055.1:n.*1665C>T | |
| ENST00000692830.1:c.*1673C>T (RAF1) | ENSP00000509461.1:n.*1673C>T | |
| ENST00000693312.1:c.1703C>T (RAF1) | ENSP00000508686.1:p.Pro568Leu | |
| ENST00000693664.1:c.*379C>T (RAF1) | ENSP00000509614.1:n.*379C>T | |
| ENST00000693705.1:c.*1307C>T (RAF1) | ENSP00000510697.1:n.*1307C>T | |
| ENST00000251849.9:c.1928C>T (RAF1) MANE Select | ENSP00000251849.4:p.Pro643Leu | |
| ENST00000442415.7:c.1988C>T (RAF1) | ENSP00000401888.2:p.Pro663Leu | |
| ENST00000676541.1:c.*2280G>A (MKRN2) | ENSP00000503730.1:n.*2280G>A | |
| ENST00000677142.1:c.*2280G>A (MKRN2) | ENSP00000504455.1:n.*2280G>A | |
| ENST00000677816.1:c.*835G>A (MKRN2) | ENSP00000502893.1:n.*835G>A | |
| ENST00000677941.1:n.2343G>A (MKRN2) | ||
| ENST00000251849.8:c.1928C>T (RAF1) | ENSP00000251849.4:p.Pro643Leu | |
| ENST00000423275.5:c.*1605C>T (RAF1) | ENSP00000401088.1:n.*1605C>T | |
| ENST00000432427.2:c.1565C>T (RAF1) | ENSP00000398591.2:p.Pro522Leu | |
| ENST00000442415.6:c.1988C>T (RAF1) | ENSP00000401888.2:p.Pro663Leu | |
| ENST00000471449.1:n.617C>T (RAF1) | ||
| NM_002880.3:c.1928C>T , LRG_413t1:c.1928C>T (RAF1) | NP_002871.1:p.Pro643Leu | |
| XM_005265355.1:c.1928C>T (RAF1) | XP_005265412.1:p.Pro643Leu | |
| XM_005265357.1:c.1829C>T (RAF1) | XP_005265414.1:p.Pro610Leu | |
| XM_005265358.3:c.1685C>T (RAF1) | XP_005265415.1:p.Pro562Leu | |
| XM_005265359.3:c.1586C>T (RAF1) | XP_005265416.1:p.Pro529Leu | |
| XM_011533974.1:c.1928C>T (RAF1) | XP_011532276.1:p.Pro643Leu | |
| XM_011533975.1:c.1685C>T (RAF1) | XP_011532277.1:p.Pro562Leu | |
| NM_001354689.1:c.1988C>T (RAF1) | NP_001341618.1:p.Pro663Leu | |
| NM_001354690.1:c.1928C>T (RAF1) | NP_001341619.1:p.Pro643Leu | |
| NM_001354691.1:c.1685C>T (RAF1) | NP_001341620.1:p.Pro562Leu | |
| NM_001354692.1:c.1685C>T (RAF1) | NP_001341621.1:p.Pro562Leu | |
| NM_001354693.1:c.1829C>T (RAF1) | NP_001341622.1:p.Pro610Leu | |
| NM_001354694.1:c.1745C>T (RAF1) | NP_001341623.1:p.Pro582Leu | |
| NM_001354695.1:c.1586C>T (RAF1) | NP_001341624.1:p.Pro529Leu | |
| NR_148940.1:n.2456C>T (RAF1) | ||
| NR_148941.1:n.2402C>T (RAF1) | ||
| NR_148942.1:n.2341C>T (RAF1) | ||
| XM_011533974.3:c.1928C>T (RAF1) | XP_011532276.1:p.Pro643Leu | |
| XM_017006966.1:c.1829C>T (RAF1) | XP_016862455.1:p.Pro610Leu | |
| NM_001354689.3:c.1988C>T (RAF1) | NP_001341618.1:p.Pro663Leu | |
| NM_001354690.2:c.1928C>T (RAF1) | NP_001341619.1:p.Pro643Leu | |
| NM_001354691.2:c.1685C>T (RAF1) | NP_001341620.1:p.Pro562Leu | |
| NM_001354692.2:c.1685C>T (RAF1) | NP_001341621.1:p.Pro562Leu | |
| NM_001354693.2:c.1829C>T (RAF1) | NP_001341622.1:p.Pro610Leu | |
| NM_001354694.2:c.1745C>T (RAF1) | NP_001341623.1:p.Pro582Leu | |
| NM_001354695.2:c.1586C>T (RAF1) | NP_001341624.1:p.Pro529Leu | |
| NR_148940.2:n.2372C>T (RAF1) | ||
| NR_148941.2:n.2318C>T (RAF1) | ||
| NR_148942.2:n.2257C>T (RAF1) | ||
| NM_001354690.3:c.1928C>T (RAF1) | NP_001341619.1:p.Pro643Leu | |
| NM_001354691.3:c.1685C>T (RAF1) | NP_001341620.1:p.Pro562Leu | |
| NM_001354692.3:c.1685C>T (RAF1) | NP_001341621.1:p.Pro562Leu | |
| NM_001354693.3:c.1829C>T (RAF1) | NP_001341622.1:p.Pro610Leu | |
| NM_001354694.3:c.1745C>T (RAF1) | NP_001341623.1:p.Pro582Leu | |
| NM_001354695.3:c.1586C>T (RAF1) | NP_001341624.1:p.Pro529Leu | |
| NM_002880.4:c.1928C>T (RAF1) MANE Select | NP_002871.1:p.Pro643Leu | |
| NR_148940.3:n.2372C>T (RAF1) | ||
| NR_148941.3:n.2318C>T (RAF1) | ||
| NR_148942.3:n.2257C>T (RAF1) |