Revel Score:
ENST00000251849 (MANE Select)
0.885
ENST00000442415
0.885
ENST00000432427
0.885
ENST00000534997
0.885
ENST00000542177
0.885
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585750C>A , CM000665.2:g.12585750C>A | GRCh38 |
| NC_000003.11:g.12627249C>A , CM000665.1:g.12627249C>A | GRCh37 |
| NC_000003.10:g.12602249C>A | NCBI36 |
| NG_007467.1:g.83430G>T , LRG_413:g.83430G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1132G>T (RAF1) | ENSP00000401088.1:n.*1132G>T | |
| ENST00000432427.3:c.784G>T (RAF1) | ||
| ENST00000460610.2:n.5212G>T (RAF1) | ||
| ENST00000471449.2:n.277G>T (RAF1) | ||
| ENST00000475353.2:n.3180G>T (RAF1) | ||
| ENST00000684903.1:c.*1144G>T (RAF1) | ENSP00000508612.1:n.*1144G>T | |
| ENST00000685348.1:c.*1095-344G>T (RAF1) | ENSP00000510285.1:n.*1095-344G>T | |
| ENST00000685437.1:c.1368G>T (RAF1) | ENSP00000508794.1:p.Leu456Phe | |
| ENST00000685653.1:c.1467G>T (RAF1) | ENSP00000509968.1:p.Leu489Phe | |
| ENST00000685697.1:n.2202G>T (RAF1) | ||
| ENST00000685738.1:c.*431G>T (RAF1) | ENSP00000510156.1:n.*431G>T | |
| ENST00000686409.1:n.4309G>T (RAF1) | ||
| ENST00000686455.1:n.3621G>T (RAF1) | ||
| ENST00000686762.1:c.*26G>T (RAF1) | ENSP00000509767.1:n.*26G>T | |
| ENST00000687257.1:n.3494G>T (RAF1) | ||
| ENST00000687326.1:c.*2192G>T (RAF1) | ENSP00000509665.1:n.*2192G>T | |
| ENST00000687505.1:n.1585G>T (RAF1) | ||
| ENST00000687923.1:c.1356G>T (RAF1) | ENSP00000510255.1:p.Leu452Phe | |
| ENST00000688269.1:n.2063G>T (RAF1) | ||
| ENST00000688444.1:n.3584G>T (RAF1) | ||
| ENST00000688543.1:c.1368G>T (RAF1) | ENSP00000509612.1:p.Leu456Phe | |
| ENST00000688625.1:c.*2836G>T (RAF1) | ENSP00000509522.1:n.*2836G>T | |
| ENST00000688803.1:n.2965-497G>T (RAF1) | ||
| ENST00000688914.1:n.453G>T (RAF1) | ||
| ENST00000689097.1:c.*1144G>T (RAF1) | ENSP00000509756.1:n.*1144G>T | |
| ENST00000689389.1:c.1290G>T (RAF1) | ENSP00000510213.1:p.Leu430Phe | |
| ENST00000689418.1:c.*2935G>T (RAF1) | ENSP00000509467.1:n.*2935G>T | |
| ENST00000689540.1:n.3408G>T (RAF1) | ||
| ENST00000689876.1:c.1418-344G>T (RAF1) | ENSP00000508535.1:n.1418-344G>T | |
| ENST00000689914.1:c.*401G>T (RAF1) | ENSP00000509847.1:n.*401G>T | |
| ENST00000690397.1:c.1356G>T (RAF1) | ENSP00000508730.1:p.Leu452Phe | |
| ENST00000690460.1:c.1455G>T (RAF1) | ENSP00000509106.1:p.Leu485Phe | |
| ENST00000690585.1:c.263-497G>T (RAF1) | ||
| ENST00000690625.1:n.2503G>T (RAF1) | ||
| ENST00000691396.1:c.*1339G>T (RAF1) | ENSP00000510712.1:n.*1339G>T | |
| ENST00000691643.1:n.2093G>T (RAF1) | ||
| ENST00000691724.1:c.*424G>T (RAF1) | ENSP00000509255.1:n.*424G>T | |
| ENST00000691779.1:c.*1045G>T (RAF1) | ENSP00000508592.1:n.*1045G>T | |
| ENST00000691888.1:c.341G>T (RAF1) | ||
| ENST00000691899.1:c.1467G>T (RAF1) | ENSP00000508763.1:p.Leu489Phe | |
| ENST00000692069.1:n.3824G>T (RAF1) | ||
| ENST00000692093.1:c.1368G>T (RAF1) | ENSP00000509669.1:p.Leu456Phe | |
| ENST00000692311.1:n.2291G>T (RAF1) | ||
| ENST00000692558.1:n.3623G>T (RAF1) | ||
| ENST00000692773.1:c.*1204G>T (RAF1) | ENSP00000509055.1:n.*1204G>T | |
| ENST00000692830.1:c.*1212G>T (RAF1) | ENSP00000509461.1:n.*1212G>T | |
| ENST00000693312.1:c.1242G>T (RAF1) | ENSP00000508686.1:p.Leu414Phe | |
| ENST00000693664.1:c.1488-497G>T (RAF1) | ENSP00000509614.1:n.1488-497G>T | |
| ENST00000693705.1:c.*1048-769G>T (RAF1) | ENSP00000510697.1:n.*1048-769G>T | |
| ENST00000251849.9:c.1467G>T (RAF1) MANE Select | ENSP00000251849.4:p.Leu489Phe | |
| ENST00000442415.7:c.1527G>T (RAF1) | ENSP00000401888.2:p.Leu509Phe | |
| ENST00000676541.1:c.*3497C>A (MKRN2) | ENSP00000503730.1:n.*3497C>A | |
| ENST00000677142.1:c.*3497C>A (MKRN2) | ENSP00000504455.1:n.*3497C>A | |
| ENST00000677816.1:c.*2052C>A (MKRN2) | ENSP00000502893.1:n.*2052C>A | |
| ENST00000677941.1:n.3560C>A (MKRN2) | ||
| ENST00000251849.8:c.1467G>T (RAF1) | ENSP00000251849.4:p.Leu489Phe | |
| ENST00000423275.5:c.*1144G>T (RAF1) | ENSP00000401088.1:n.*1144G>T | |
| ENST00000432427.2:c.1104G>T (RAF1) | ENSP00000398591.2:p.Leu368Phe | |
| ENST00000442415.6:c.1527G>T (RAF1) | ENSP00000401888.2:p.Leu509Phe | |
| ENST00000471449.1:n.156G>T (RAF1) | ||
| NM_002880.3:c.1467G>T , LRG_413t1:c.1467G>T (RAF1) | NP_002871.1:p.Leu489Phe | |
| XM_005265355.1:c.1467G>T (RAF1) | XP_005265412.1:p.Leu489Phe | |
| XM_005265357.1:c.1368G>T (RAF1) | XP_005265414.1:p.Leu456Phe | |
| XM_005265358.3:c.1224G>T (RAF1) | XP_005265415.1:p.Leu408Phe | |
| XM_005265359.3:c.1125G>T (RAF1) | XP_005265416.1:p.Leu375Phe | |
| XM_005265360.1:c.1418-344G>T (RAF1) | XP_005265417.1:n.1418-344G>T | |
| XM_011533974.1:c.1467G>T (RAF1) | XP_011532276.1:p.Leu489Phe | |
| XM_011533975.1:c.1224G>T (RAF1) | XP_011532277.1:p.Leu408Phe | |
| NM_001354689.1:c.1527G>T (RAF1) | NP_001341618.1:p.Leu509Phe | |
| NM_001354690.1:c.1467G>T (RAF1) | NP_001341619.1:p.Leu489Phe | |
| NM_001354691.1:c.1224G>T (RAF1) | NP_001341620.1:p.Leu408Phe | |
| NM_001354692.1:c.1224G>T (RAF1) | NP_001341621.1:p.Leu408Phe | |
| NM_001354693.1:c.1368G>T (RAF1) | NP_001341622.1:p.Leu456Phe | |
| NM_001354694.1:c.1284G>T (RAF1) | NP_001341623.1:p.Leu428Phe | |
| NM_001354695.1:c.1125G>T (RAF1) | NP_001341624.1:p.Leu375Phe | |
| NR_148940.1:n.1995G>T (RAF1) | ||
| NR_148941.1:n.1941G>T (RAF1) | ||
| NR_148942.1:n.1880G>T (RAF1) | ||
| XM_011533974.3:c.1467G>T (RAF1) | XP_011532276.1:p.Leu489Phe | |
| XM_017006966.1:c.1368G>T (RAF1) | XP_016862455.1:p.Leu456Phe | |
| NM_001354689.3:c.1527G>T (RAF1) | NP_001341618.1:p.Leu509Phe | |
| NM_001354690.2:c.1467G>T (RAF1) | NP_001341619.1:p.Leu489Phe | |
| NM_001354691.2:c.1224G>T (RAF1) | NP_001341620.1:p.Leu408Phe | |
| NM_001354692.2:c.1224G>T (RAF1) | NP_001341621.1:p.Leu408Phe | |
| NM_001354693.2:c.1368G>T (RAF1) | NP_001341622.1:p.Leu456Phe | |
| NM_001354694.2:c.1284G>T (RAF1) | NP_001341623.1:p.Leu428Phe | |
| NM_001354695.2:c.1125G>T (RAF1) | NP_001341624.1:p.Leu375Phe | |
| NR_148940.2:n.1911G>T (RAF1) | ||
| NR_148941.2:n.1857G>T (RAF1) | ||
| NR_148942.2:n.1796G>T (RAF1) | ||
| NM_001354690.3:c.1467G>T (RAF1) | NP_001341619.1:p.Leu489Phe | |
| NM_001354691.3:c.1224G>T (RAF1) | NP_001341620.1:p.Leu408Phe | |
| NM_001354692.3:c.1224G>T (RAF1) | NP_001341621.1:p.Leu408Phe | |
| NM_001354693.3:c.1368G>T (RAF1) | NP_001341622.1:p.Leu456Phe | |
| NM_001354694.3:c.1284G>T (RAF1) | NP_001341623.1:p.Leu428Phe | |
| NM_001354695.3:c.1125G>T (RAF1) | NP_001341624.1:p.Leu375Phe | |
| NM_002880.4:c.1467G>T (RAF1) MANE Select | NP_002871.1:p.Leu489Phe | |
| NR_148940.3:n.1911G>T (RAF1) | ||
| NR_148941.3:n.1857G>T (RAF1) | ||
| NR_148942.3:n.1796G>T (RAF1) |