Linked Data
ClinVar Variation Id:
40627
ClinVar RCV Id:
RCV000037682
RCV000149839
RCV000242861
RCV000350733
RCV000390530
RCV000756586
RCV004528154
dbSNP Id:
rs141791080
ExAC:
3:12626130 T / C
gnomAD v2:
3-12626130-T-C
gnomAD v3:
3-12584631-T-C
gnomAD v4:
3-12584631-T-C
ERepo:
CA134712/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584631T>C , CM000665.2:g.12584631T>C | GRCh38 |
| NC_000003.11:g.12626130T>C , CM000665.1:g.12626130T>C | GRCh37 |
| NC_000003.10:g.12601130T>C | NCBI36 |
| NG_007467.1:g.84549A>G , LRG_413:g.84549A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1495A>G (RAF1) | ENSP00000401088.1:n.*1495A>G | |
| ENST00000432427.3:c.1147A>G (RAF1) | ||
| ENST00000460610.2:n.6142A>G (RAF1) | ||
| ENST00000471449.2:n.640A>G (RAF1) | ||
| ENST00000475353.2:n.4110A>G (RAF1) | ||
| ENST00000684903.1:c.*1507A>G (RAF1) | ENSP00000508612.1:n.*1507A>G | |
| ENST00000685348.1:c.*1541A>G (RAF1) | ENSP00000510285.1:n.*1541A>G | |
| ENST00000685437.1:c.1731A>G (RAF1) | ENSP00000508794.1:p.Gln577= | |
| ENST00000685653.1:c.1830A>G (RAF1) | ENSP00000509968.1:p.Gln610= | |
| ENST00000685697.1:n.2565A>G (RAF1) | ||
| ENST00000685738.1:c.*794A>G (RAF1) | ENSP00000510156.1:n.*794A>G | |
| ENST00000686409.1:n.5239A>G (RAF1) | ||
| ENST00000686455.1:n.4551A>G (RAF1) | ||
| ENST00000686762.1:c.*389A>G (RAF1) | ENSP00000509767.1:n.*389A>G | |
| ENST00000687257.1:n.4284A>G (RAF1) | ||
| ENST00000687326.1:c.*3122A>G (RAF1) | ENSP00000509665.1:n.*3122A>G | |
| ENST00000687505.1:n.1948A>G (RAF1) | ||
| ENST00000687923.1:c.1719A>G (RAF1) | ENSP00000510255.1:p.Gln573= | |
| ENST00000688269.1:n.2426A>G (RAF1) | ||
| ENST00000688444.1:n.3947A>G (RAF1) | ||
| ENST00000688543.1:c.1731A>G (RAF1) | ENSP00000509612.1:p.Gln577= | |
| ENST00000688625.1:c.*3199A>G (RAF1) | ENSP00000509522.1:n.*3199A>G | |
| ENST00000688803.1:n.3258A>G (RAF1) | ||
| ENST00000689097.1:c.*1507A>G (RAF1) | ENSP00000509756.1:n.*1507A>G | |
| ENST00000689389.1:c.1653A>G (RAF1) | ENSP00000510213.1:p.Gln551= | |
| ENST00000689418.1:c.*3725A>G (RAF1) | ENSP00000509467.1:n.*3725A>G | |
| ENST00000689540.1:n.4198A>G (RAF1) | ||
| ENST00000689876.1:c.*379A>G (RAF1) | ENSP00000508535.1:n.*379A>G | |
| ENST00000689914.1:c.*764A>G (RAF1) | ENSP00000509847.1:n.*764A>G | |
| ENST00000690397.1:c.1719A>G (RAF1) | ENSP00000508730.1:p.Gln573= | |
| ENST00000690460.1:c.1818A>G (RAF1) | ENSP00000509106.1:p.Gln606= | |
| ENST00000690585.1:c.556A>G (RAF1) | ||
| ENST00000690625.1:n.2866A>G (RAF1) | ||
| ENST00000691396.1:c.*1702A>G (RAF1) | ENSP00000510712.1:n.*1702A>G | |
| ENST00000691643.1:n.2883A>G (RAF1) | ||
| ENST00000691724.1:c.*787A>G (RAF1) | ENSP00000509255.1:n.*787A>G | |
| ENST00000691779.1:c.*1408A>G (RAF1) | ENSP00000508592.1:n.*1408A>G | |
| ENST00000691888.1:c.704A>G (RAF1) | ||
| ENST00000691899.1:c.1830A>G (RAF1) | ENSP00000508763.1:p.Gln610= | |
| ENST00000692069.1:n.4754A>G (RAF1) | ||
| ENST00000692093.1:c.1731A>G (RAF1) | ENSP00000509669.1:p.Gln577= | |
| ENST00000692311.1:n.2654A>G (RAF1) | ||
| ENST00000692558.1:n.4413A>G (RAF1) | ||
| ENST00000692773.1:c.*1567A>G (RAF1) | ENSP00000509055.1:n.*1567A>G | |
| ENST00000692830.1:c.*1575A>G (RAF1) | ENSP00000509461.1:n.*1575A>G | |
| ENST00000693312.1:c.1605A>G (RAF1) | ENSP00000508686.1:p.Gln535= | |
| ENST00000693664.1:c.*281A>G (RAF1) | ENSP00000509614.1:n.*281A>G | |
| ENST00000693705.1:c.*1209A>G (RAF1) | ENSP00000510697.1:n.*1209A>G | |
| ENST00000251849.9:c.1830A>G (RAF1) MANE Select | ENSP00000251849.4:p.Gln610= | |
| ENST00000442415.7:c.1890A>G (RAF1) | ENSP00000401888.2:p.Gln630= | |
| ENST00000676541.1:c.*2378T>C (MKRN2) | ENSP00000503730.1:n.*2378T>C | |
| ENST00000677142.1:c.*2378T>C (MKRN2) | ENSP00000504455.1:n.*2378T>C | |
| ENST00000677816.1:c.*933T>C (MKRN2) | ENSP00000502893.1:n.*933T>C | |
| ENST00000677941.1:n.2441T>C (MKRN2) | ||
| ENST00000251849.8:c.1830A>G (RAF1) | ENSP00000251849.4:p.Gln610= | |
| ENST00000423275.5:c.*1507A>G (RAF1) | ENSP00000401088.1:n.*1507A>G | |
| ENST00000432427.2:c.1467A>G (RAF1) | ENSP00000398591.2:p.Gln489= | |
| ENST00000442415.6:c.1890A>G (RAF1) | ENSP00000401888.2:p.Gln630= | |
| ENST00000471449.1:n.519A>G (RAF1) | ||
| NM_002880.3:c.1830A>G , LRG_413t1:c.1830A>G (RAF1) | NP_002871.1:p.Gln610= | |
| XM_005265355.1:c.1830A>G (RAF1) | XP_005265412.1:p.Gln610= | |
| XM_005265357.1:c.1731A>G (RAF1) | XP_005265414.1:p.Gln577= | |
| XM_005265358.3:c.1587A>G (RAF1) | XP_005265415.1:p.Gln529= | |
| XM_005265359.3:c.1488A>G (RAF1) | XP_005265416.1:p.Gln496= | |
| XM_011533974.1:c.1830A>G (RAF1) | XP_011532276.1:p.Gln610= | |
| XM_011533975.1:c.1587A>G (RAF1) | XP_011532277.1:p.Gln529= | |
| NM_001354689.1:c.1890A>G (RAF1) | NP_001341618.1:p.Gln630= | |
| NM_001354690.1:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.1:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.1:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.1:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.1:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.1:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NR_148940.1:n.2358A>G (RAF1) | ||
| NR_148941.1:n.2304A>G (RAF1) | ||
| NR_148942.1:n.2243A>G (RAF1) | ||
| XM_011533974.3:c.1830A>G (RAF1) | XP_011532276.1:p.Gln610= | |
| XM_017006966.1:c.1731A>G (RAF1) | XP_016862455.1:p.Gln577= | |
| NM_001354689.3:c.1890A>G (RAF1) | NP_001341618.1:p.Gln630= | |
| NM_001354690.2:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.2:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.2:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.2:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.2:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.2:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NR_148940.2:n.2274A>G (RAF1) | ||
| NR_148941.2:n.2220A>G (RAF1) | ||
| NR_148942.2:n.2159A>G (RAF1) | ||
| NM_001354690.3:c.1830A>G (RAF1) | NP_001341619.1:p.Gln610= | |
| NM_001354691.3:c.1587A>G (RAF1) | NP_001341620.1:p.Gln529= | |
| NM_001354692.3:c.1587A>G (RAF1) | NP_001341621.1:p.Gln529= | |
| NM_001354693.3:c.1731A>G (RAF1) | NP_001341622.1:p.Gln577= | |
| NM_001354694.3:c.1647A>G (RAF1) | NP_001341623.1:p.Gln549= | |
| NM_001354695.3:c.1488A>G (RAF1) | NP_001341624.1:p.Gln496= | |
| NM_002880.4:c.1830A>G (RAF1) MANE Select | NP_002871.1:p.Gln610= | |
| NR_148940.3:n.2274A>G (RAF1) | ||
| NR_148941.3:n.2220A>G (RAF1) | ||
| NR_148942.3:n.2159A>G (RAF1) |