Revel Score:
ENST00000251849 (MANE Select)
0.493
ENST00000442415
0.493
ENST00000432427
0.493
ENST00000534997
0.493
ENST00000542177
0.493
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584582G>A , CM000665.2:g.12584582G>A | GRCh38 |
| NC_000003.11:g.12626081G>A , CM000665.1:g.12626081G>A | GRCh37 |
| NC_000003.10:g.12601081G>A | NCBI36 |
| NG_007467.1:g.84598C>T , LRG_413:g.84598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1544C>T (RAF1) | ENSP00000401088.1:n.*1544C>T | |
| ENST00000432427.3:c.1196C>T (RAF1) | ||
| ENST00000460610.2:n.6191C>T (RAF1) | ||
| ENST00000471449.2:n.689C>T (RAF1) | ||
| ENST00000475353.2:n.4159C>T (RAF1) | ||
| ENST00000684903.1:c.*1556C>T (RAF1) | ENSP00000508612.1:n.*1556C>T | |
| ENST00000685348.1:c.*1590C>T (RAF1) | ENSP00000510285.1:n.*1590C>T | |
| ENST00000685437.1:c.1780C>T (RAF1) | ENSP00000508794.1:p.Arg594Trp | |
| ENST00000685653.1:c.1879C>T (RAF1) | ENSP00000509968.1:p.Arg627Trp | |
| ENST00000685697.1:n.2614C>T (RAF1) | ||
| ENST00000685738.1:c.*843C>T (RAF1) | ENSP00000510156.1:n.*843C>T | |
| ENST00000686409.1:n.5288C>T (RAF1) | ||
| ENST00000686455.1:n.4600C>T (RAF1) | ||
| ENST00000686762.1:c.*438C>T (RAF1) | ENSP00000509767.1:n.*438C>T | |
| ENST00000687257.1:n.4333C>T (RAF1) | ||
| ENST00000687326.1:c.*3171C>T (RAF1) | ENSP00000509665.1:n.*3171C>T | |
| ENST00000687505.1:n.1997C>T (RAF1) | ||
| ENST00000687923.1:c.1768C>T (RAF1) | ENSP00000510255.1:p.Arg590Trp | |
| ENST00000688269.1:n.2475C>T (RAF1) | ||
| ENST00000688444.1:n.3996C>T (RAF1) | ||
| ENST00000688543.1:c.1780C>T (RAF1) | ENSP00000509612.1:p.Arg594Trp | |
| ENST00000688625.1:c.*3248C>T (RAF1) | ENSP00000509522.1:n.*3248C>T | |
| ENST00000688803.1:n.3307C>T (RAF1) | ||
| ENST00000689097.1:c.*1556C>T (RAF1) | ENSP00000509756.1:n.*1556C>T | |
| ENST00000689389.1:c.1702C>T (RAF1) | ENSP00000510213.1:p.Arg568Trp | |
| ENST00000689418.1:c.*3774C>T (RAF1) | ENSP00000509467.1:n.*3774C>T | |
| ENST00000689540.1:n.4247C>T (RAF1) | ||
| ENST00000689876.1:c.*428C>T (RAF1) | ENSP00000508535.1:n.*428C>T | |
| ENST00000689914.1:c.*813C>T (RAF1) | ENSP00000509847.1:n.*813C>T | |
| ENST00000690397.1:c.1768C>T (RAF1) | ENSP00000508730.1:p.Arg590Trp | |
| ENST00000690460.1:c.1867C>T (RAF1) | ENSP00000509106.1:p.Arg623Trp | |
| ENST00000690585.1:c.605C>T (RAF1) | ||
| ENST00000690625.1:n.2915C>T (RAF1) | ||
| ENST00000691396.1:c.*1751C>T (RAF1) | ENSP00000510712.1:n.*1751C>T | |
| ENST00000691643.1:n.2932C>T (RAF1) | ||
| ENST00000691724.1:c.*836C>T (RAF1) | ENSP00000509255.1:n.*836C>T | |
| ENST00000691779.1:c.*1457C>T (RAF1) | ENSP00000508592.1:n.*1457C>T | |
| ENST00000691888.1:c.753C>T (RAF1) | ||
| ENST00000691899.1:c.1879C>T (RAF1) | ENSP00000508763.1:p.Arg627Trp | |
| ENST00000692069.1:n.4803C>T (RAF1) | ||
| ENST00000692093.1:c.1780C>T (RAF1) | ENSP00000509669.1:p.Arg594Trp | |
| ENST00000692311.1:n.2703C>T (RAF1) | ||
| ENST00000692558.1:n.4462C>T (RAF1) | ||
| ENST00000692773.1:c.*1616C>T (RAF1) | ENSP00000509055.1:n.*1616C>T | |
| ENST00000692830.1:c.*1624C>T (RAF1) | ENSP00000509461.1:n.*1624C>T | |
| ENST00000693312.1:c.1654C>T (RAF1) | ENSP00000508686.1:p.Arg552Trp | |
| ENST00000693664.1:c.*330C>T (RAF1) | ENSP00000509614.1:n.*330C>T | |
| ENST00000693705.1:c.*1258C>T (RAF1) | ENSP00000510697.1:n.*1258C>T | |
| ENST00000251849.9:c.1879C>T (RAF1) MANE Select | ENSP00000251849.4:p.Arg627Trp | |
| ENST00000442415.7:c.1939C>T (RAF1) | ENSP00000401888.2:p.Arg647Trp | |
| ENST00000676541.1:c.*2329G>A (MKRN2) | ENSP00000503730.1:n.*2329G>A | |
| ENST00000677142.1:c.*2329G>A (MKRN2) | ENSP00000504455.1:n.*2329G>A | |
| ENST00000677816.1:c.*884G>A (MKRN2) | ENSP00000502893.1:n.*884G>A | |
| ENST00000677941.1:n.2392G>A (MKRN2) | ||
| ENST00000251849.8:c.1879C>T (RAF1) | ENSP00000251849.4:p.Arg627Trp | |
| ENST00000423275.5:c.*1556C>T (RAF1) | ENSP00000401088.1:n.*1556C>T | |
| ENST00000432427.2:c.1516C>T (RAF1) | ENSP00000398591.2:p.Arg506Trp | |
| ENST00000442415.6:c.1939C>T (RAF1) | ENSP00000401888.2:p.Arg647Trp | |
| ENST00000471449.1:n.568C>T (RAF1) | ||
| NM_002880.3:c.1879C>T , LRG_413t1:c.1879C>T (RAF1) | NP_002871.1:p.Arg627Trp | |
| XM_005265355.1:c.1879C>T (RAF1) | XP_005265412.1:p.Arg627Trp | |
| XM_005265357.1:c.1780C>T (RAF1) | XP_005265414.1:p.Arg594Trp | |
| XM_005265358.3:c.1636C>T (RAF1) | XP_005265415.1:p.Arg546Trp | |
| XM_005265359.3:c.1537C>T (RAF1) | XP_005265416.1:p.Arg513Trp | |
| XM_011533974.1:c.1879C>T (RAF1) | XP_011532276.1:p.Arg627Trp | |
| XM_011533975.1:c.1636C>T (RAF1) | XP_011532277.1:p.Arg546Trp | |
| NM_001354689.1:c.1939C>T (RAF1) | NP_001341618.1:p.Arg647Trp | |
| NM_001354690.1:c.1879C>T (RAF1) | NP_001341619.1:p.Arg627Trp | |
| NM_001354691.1:c.1636C>T (RAF1) | NP_001341620.1:p.Arg546Trp | |
| NM_001354692.1:c.1636C>T (RAF1) | NP_001341621.1:p.Arg546Trp | |
| NM_001354693.1:c.1780C>T (RAF1) | NP_001341622.1:p.Arg594Trp | |
| NM_001354694.1:c.1696C>T (RAF1) | NP_001341623.1:p.Arg566Trp | |
| NM_001354695.1:c.1537C>T (RAF1) | NP_001341624.1:p.Arg513Trp | |
| NR_148940.1:n.2407C>T (RAF1) | ||
| NR_148941.1:n.2353C>T (RAF1) | ||
| NR_148942.1:n.2292C>T (RAF1) | ||
| XM_011533974.3:c.1879C>T (RAF1) | XP_011532276.1:p.Arg627Trp | |
| XM_017006966.1:c.1780C>T (RAF1) | XP_016862455.1:p.Arg594Trp | |
| NM_001354689.3:c.1939C>T (RAF1) | NP_001341618.1:p.Arg647Trp | |
| NM_001354690.2:c.1879C>T (RAF1) | NP_001341619.1:p.Arg627Trp | |
| NM_001354691.2:c.1636C>T (RAF1) | NP_001341620.1:p.Arg546Trp | |
| NM_001354692.2:c.1636C>T (RAF1) | NP_001341621.1:p.Arg546Trp | |
| NM_001354693.2:c.1780C>T (RAF1) | NP_001341622.1:p.Arg594Trp | |
| NM_001354694.2:c.1696C>T (RAF1) | NP_001341623.1:p.Arg566Trp | |
| NM_001354695.2:c.1537C>T (RAF1) | NP_001341624.1:p.Arg513Trp | |
| NR_148940.2:n.2323C>T (RAF1) | ||
| NR_148941.2:n.2269C>T (RAF1) | ||
| NR_148942.2:n.2208C>T (RAF1) | ||
| NM_001354690.3:c.1879C>T (RAF1) | NP_001341619.1:p.Arg627Trp | |
| NM_001354691.3:c.1636C>T (RAF1) | NP_001341620.1:p.Arg546Trp | |
| NM_001354692.3:c.1636C>T (RAF1) | NP_001341621.1:p.Arg546Trp | |
| NM_001354693.3:c.1780C>T (RAF1) | NP_001341622.1:p.Arg594Trp | |
| NM_001354694.3:c.1696C>T (RAF1) | NP_001341623.1:p.Arg566Trp | |
| NM_001354695.3:c.1537C>T (RAF1) | NP_001341624.1:p.Arg513Trp | |
| NM_002880.4:c.1879C>T (RAF1) MANE Select | NP_002871.1:p.Arg627Trp | |
| NR_148940.3:n.2323C>T (RAF1) | ||
| NR_148941.3:n.2269C>T (RAF1) | ||
| NR_148942.3:n.2208C>T (RAF1) |