gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021757 (SAS)
Genomes Max Group AF
0.00007296 (SAS)
Exomes Max Group AF
0.00021109 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584532C>T , CM000665.2:g.12584532C>T | GRCh38 |
| NC_000003.11:g.12626031C>T , CM000665.1:g.12626031C>T | GRCh37 |
| NC_000003.10:g.12601031C>T | NCBI36 |
| NG_007467.1:g.84648G>A , LRG_413:g.84648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1594G>A (RAF1) | ENSP00000401088.1:n.*1594G>A | |
| ENST00000432427.3:c.1246G>A (RAF1) | ||
| ENST00000460610.2:n.6241G>A (RAF1) | ||
| ENST00000471449.2:n.739G>A (RAF1) | ||
| ENST00000475353.2:n.4209G>A (RAF1) | ||
| ENST00000684903.1:c.*1606G>A (RAF1) | ENSP00000508612.1:n.*1606G>A | |
| ENST00000685348.1:c.*1640G>A (RAF1) | ENSP00000510285.1:n.*1640G>A | |
| ENST00000685437.1:c.1830G>A (RAF1) | ENSP00000508794.1:p.Pro610= | |
| ENST00000685653.1:c.1929G>A (RAF1) | ENSP00000509968.1:p.Pro643= | |
| ENST00000685697.1:n.2664G>A (RAF1) | ||
| ENST00000685738.1:c.*893G>A (RAF1) | ENSP00000510156.1:n.*893G>A | |
| ENST00000686409.1:n.5338G>A (RAF1) | ||
| ENST00000686455.1:n.4650G>A (RAF1) | ||
| ENST00000686762.1:c.*488G>A (RAF1) | ENSP00000509767.1:n.*488G>A | |
| ENST00000687257.1:n.4383G>A (RAF1) | ||
| ENST00000687326.1:c.*3221G>A (RAF1) | ENSP00000509665.1:n.*3221G>A | |
| ENST00000687505.1:n.2047G>A (RAF1) | ||
| ENST00000687923.1:c.1818G>A (RAF1) | ENSP00000510255.1:p.Pro606= | |
| ENST00000688269.1:n.2525G>A (RAF1) | ||
| ENST00000688444.1:n.4046G>A (RAF1) | ||
| ENST00000688543.1:c.1830G>A (RAF1) | ENSP00000509612.1:p.Pro610= | |
| ENST00000688625.1:c.*3298G>A (RAF1) | ENSP00000509522.1:n.*3298G>A | |
| ENST00000688803.1:n.3357G>A (RAF1) | ||
| ENST00000689097.1:c.*1606G>A (RAF1) | ENSP00000509756.1:n.*1606G>A | |
| ENST00000689389.1:c.1752G>A (RAF1) | ENSP00000510213.1:p.Pro584= | |
| ENST00000689418.1:c.*3824G>A (RAF1) | ENSP00000509467.1:n.*3824G>A | |
| ENST00000689540.1:n.4297G>A (RAF1) | ||
| ENST00000689876.1:c.*478G>A (RAF1) | ENSP00000508535.1:n.*478G>A | |
| ENST00000689914.1:c.*863G>A (RAF1) | ENSP00000509847.1:n.*863G>A | |
| ENST00000690397.1:c.1818G>A (RAF1) | ENSP00000508730.1:p.Pro606= | |
| ENST00000690460.1:c.1917G>A (RAF1) | ENSP00000509106.1:p.Pro639= | |
| ENST00000690585.1:c.655G>A (RAF1) | ||
| ENST00000690625.1:n.2965G>A (RAF1) | ||
| ENST00000691396.1:c.*1801G>A (RAF1) | ENSP00000510712.1:n.*1801G>A | |
| ENST00000691643.1:n.2982G>A (RAF1) | ||
| ENST00000691724.1:c.*886G>A (RAF1) | ENSP00000509255.1:n.*886G>A | |
| ENST00000691779.1:c.*1507G>A (RAF1) | ENSP00000508592.1:n.*1507G>A | |
| ENST00000691888.1:c.803G>A (RAF1) | ||
| ENST00000691899.1:c.1929G>A (RAF1) | ENSP00000508763.1:p.Pro643= | |
| ENST00000692069.1:n.4853G>A (RAF1) | ||
| ENST00000692093.1:c.1830G>A (RAF1) | ENSP00000509669.1:p.Pro610= | |
| ENST00000692311.1:n.2753G>A (RAF1) | ||
| ENST00000692558.1:n.4512G>A (RAF1) | ||
| ENST00000692773.1:c.*1666G>A (RAF1) | ENSP00000509055.1:n.*1666G>A | |
| ENST00000692830.1:c.*1674G>A (RAF1) | ENSP00000509461.1:n.*1674G>A | |
| ENST00000693312.1:c.1704G>A (RAF1) | ENSP00000508686.1:p.Pro568= | |
| ENST00000693664.1:c.*380G>A (RAF1) | ENSP00000509614.1:n.*380G>A | |
| ENST00000693705.1:c.*1308G>A (RAF1) | ENSP00000510697.1:n.*1308G>A | |
| ENST00000251849.9:c.1929G>A (RAF1) MANE Select | ENSP00000251849.4:p.Pro643= | |
| ENST00000442415.7:c.1989G>A (RAF1) | ENSP00000401888.2:p.Pro663= | |
| ENST00000676541.1:c.*2279C>T (MKRN2) | ENSP00000503730.1:n.*2279C>T | |
| ENST00000677142.1:c.*2279C>T (MKRN2) | ENSP00000504455.1:n.*2279C>T | |
| ENST00000677816.1:c.*834C>T (MKRN2) | ENSP00000502893.1:n.*834C>T | |
| ENST00000677941.1:n.2342C>T (MKRN2) | ||
| ENST00000251849.8:c.1929G>A (RAF1) | ENSP00000251849.4:p.Pro643= | |
| ENST00000423275.5:c.*1606G>A (RAF1) | ENSP00000401088.1:n.*1606G>A | |
| ENST00000432427.2:c.1566G>A (RAF1) | ENSP00000398591.2:p.Pro522= | |
| ENST00000442415.6:c.1989G>A (RAF1) | ENSP00000401888.2:p.Pro663= | |
| ENST00000471449.1:n.618G>A (RAF1) | ||
| NM_002880.3:c.1929G>A , LRG_413t1:c.1929G>A (RAF1) | NP_002871.1:p.Pro643= | |
| XM_005265355.1:c.1929G>A (RAF1) | XP_005265412.1:p.Pro643= | |
| XM_005265357.1:c.1830G>A (RAF1) | XP_005265414.1:p.Pro610= | |
| XM_005265358.3:c.1686G>A (RAF1) | XP_005265415.1:p.Pro562= | |
| XM_005265359.3:c.1587G>A (RAF1) | XP_005265416.1:p.Pro529= | |
| XM_011533974.1:c.1929G>A (RAF1) | XP_011532276.1:p.Pro643= | |
| XM_011533975.1:c.1686G>A (RAF1) | XP_011532277.1:p.Pro562= | |
| NM_001354689.1:c.1989G>A (RAF1) | NP_001341618.1:p.Pro663= | |
| NM_001354690.1:c.1929G>A (RAF1) | NP_001341619.1:p.Pro643= | |
| NM_001354691.1:c.1686G>A (RAF1) | NP_001341620.1:p.Pro562= | |
| NM_001354692.1:c.1686G>A (RAF1) | NP_001341621.1:p.Pro562= | |
| NM_001354693.1:c.1830G>A (RAF1) | NP_001341622.1:p.Pro610= | |
| NM_001354694.1:c.1746G>A (RAF1) | NP_001341623.1:p.Pro582= | |
| NM_001354695.1:c.1587G>A (RAF1) | NP_001341624.1:p.Pro529= | |
| NR_148940.1:n.2457G>A (RAF1) | ||
| NR_148941.1:n.2403G>A (RAF1) | ||
| NR_148942.1:n.2342G>A (RAF1) | ||
| XM_011533974.3:c.1929G>A (RAF1) | XP_011532276.1:p.Pro643= | |
| XM_017006966.1:c.1830G>A (RAF1) | XP_016862455.1:p.Pro610= | |
| NM_001354689.3:c.1989G>A (RAF1) | NP_001341618.1:p.Pro663= | |
| NM_001354690.2:c.1929G>A (RAF1) | NP_001341619.1:p.Pro643= | |
| NM_001354691.2:c.1686G>A (RAF1) | NP_001341620.1:p.Pro562= | |
| NM_001354692.2:c.1686G>A (RAF1) | NP_001341621.1:p.Pro562= | |
| NM_001354693.2:c.1830G>A (RAF1) | NP_001341622.1:p.Pro610= | |
| NM_001354694.2:c.1746G>A (RAF1) | NP_001341623.1:p.Pro582= | |
| NM_001354695.2:c.1587G>A (RAF1) | NP_001341624.1:p.Pro529= | |
| NR_148940.2:n.2373G>A (RAF1) | ||
| NR_148941.2:n.2319G>A (RAF1) | ||
| NR_148942.2:n.2258G>A (RAF1) | ||
| NM_001354690.3:c.1929G>A (RAF1) | NP_001341619.1:p.Pro643= | |
| NM_001354691.3:c.1686G>A (RAF1) | NP_001341620.1:p.Pro562= | |
| NM_001354692.3:c.1686G>A (RAF1) | NP_001341621.1:p.Pro562= | |
| NM_001354693.3:c.1830G>A (RAF1) | NP_001341622.1:p.Pro610= | |
| NM_001354694.3:c.1746G>A (RAF1) | NP_001341623.1:p.Pro582= | |
| NM_001354695.3:c.1587G>A (RAF1) | NP_001341624.1:p.Pro529= | |
| NM_002880.4:c.1929G>A (RAF1) MANE Select | NP_002871.1:p.Pro643= | |
| NR_148940.3:n.2373G>A (RAF1) | ||
| NR_148941.3:n.2319G>A (RAF1) | ||
| NR_148942.3:n.2258G>A (RAF1) |