Linked Data
ClinVar Variation Id:
285438
dbSNP Id:
rs771344560
ExAC:
3:12626617 T / C
gnomAD v2:
3-12626617-T-C
gnomAD v3:
3-12585118-T-C
gnomAD v4:
3-12585118-T-C
ERepo:
CA2259454/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585118T>C , CM000665.2:g.12585118T>C | GRCh38 |
| NC_000003.11:g.12626617T>C , CM000665.1:g.12626617T>C | GRCh37 |
| NC_000003.10:g.12601617T>C | NCBI36 |
| NG_007467.1:g.84062A>G , LRG_413:g.84062A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1333+4A>G (RAF1) | ENSP00000401088.1:n.*1333+4A>G | |
| ENST00000432427.3:c.985+4A>G (RAF1) | ||
| ENST00000460610.2:n.5844A>G (RAF1) | ||
| ENST00000471449.2:n.478+4A>G (RAF1) | ||
| ENST00000475353.2:n.3812A>G (RAF1) | ||
| ENST00000684903.1:c.*1345+4A>G (RAF1) | ENSP00000508612.1:n.*1345+4A>G | |
| ENST00000685348.1:c.*1379+4A>G (RAF1) | ENSP00000510285.1:n.*1379+4A>G | |
| ENST00000685437.1:c.1569+4A>G (RAF1) | ENSP00000508794.1:n.1569+4A>G | |
| ENST00000685653.1:c.1668+4A>G (RAF1) | ENSP00000509968.1:n.1668+4A>G | |
| ENST00000685697.1:n.2403+4A>G (RAF1) | ||
| ENST00000685738.1:c.*632+4A>G (RAF1) | ENSP00000510156.1:n.*632+4A>G | |
| ENST00000686409.1:n.4941A>G (RAF1) | ||
| ENST00000686455.1:n.4253A>G (RAF1) | ||
| ENST00000686762.1:c.*227+4A>G (RAF1) | ENSP00000509767.1:n.*227+4A>G | |
| ENST00000687257.1:n.4122+4A>G (RAF1) | ||
| ENST00000687326.1:c.*2824A>G (RAF1) | ENSP00000509665.1:n.*2824A>G | |
| ENST00000687505.1:n.1786+4A>G (RAF1) | ||
| ENST00000687923.1:c.1557+4A>G (RAF1) | ENSP00000510255.1:n.1557+4A>G | |
| ENST00000688269.1:n.2264+4A>G (RAF1) | ||
| ENST00000688444.1:n.3785+4A>G (RAF1) | ||
| ENST00000688543.1:c.1569+4A>G (RAF1) | ENSP00000509612.1:n.1569+4A>G | |
| ENST00000688625.1:c.*3037+4A>G (RAF1) | ENSP00000509522.1:n.*3037+4A>G | |
| ENST00000688803.1:n.3096+4A>G (RAF1) | ||
| ENST00000688914.1:n.1081+4A>G (RAF1) | ||
| ENST00000689097.1:c.*1345+4A>G (RAF1) | ENSP00000509756.1:n.*1345+4A>G | |
| ENST00000689389.1:c.1491+4A>G (RAF1) | ENSP00000510213.1:n.1491+4A>G | |
| ENST00000689418.1:c.*3563+4A>G (RAF1) | ENSP00000509467.1:n.*3563+4A>G | |
| ENST00000689540.1:n.4036+4A>G (RAF1) | ||
| ENST00000689876.1:c.*217+4A>G (RAF1) | ENSP00000508535.1:n.*217+4A>G | |
| ENST00000689914.1:c.*602+4A>G (RAF1) | ENSP00000509847.1:n.*602+4A>G | |
| ENST00000690397.1:c.1557+4A>G (RAF1) | ENSP00000508730.1:n.1557+4A>G | |
| ENST00000690460.1:c.1656+4A>G (RAF1) | ENSP00000509106.1:n.1656+4A>G | |
| ENST00000690585.1:c.394+4A>G (RAF1) | ||
| ENST00000690625.1:n.2704+4A>G (RAF1) | ||
| ENST00000691396.1:c.*1540+4A>G (RAF1) | ENSP00000510712.1:n.*1540+4A>G | |
| ENST00000691643.1:n.2721+4A>G (RAF1) | ||
| ENST00000691724.1:c.*625+4A>G (RAF1) | ENSP00000509255.1:n.*625+4A>G | |
| ENST00000691779.1:c.*1246+4A>G (RAF1) | ENSP00000508592.1:n.*1246+4A>G | |
| ENST00000691888.1:c.542+4A>G (RAF1) | ||
| ENST00000691899.1:c.1668+4A>G (RAF1) | ENSP00000508763.1:n.1668+4A>G | |
| ENST00000692069.1:n.4456A>G (RAF1) | ||
| ENST00000692093.1:c.1569+4A>G (RAF1) | ENSP00000509669.1:n.1569+4A>G | |
| ENST00000692311.1:n.2492+4A>G (RAF1) | ||
| ENST00000692558.1:n.4251+4A>G (RAF1) | ||
| ENST00000692773.1:c.*1405+4A>G (RAF1) | ENSP00000509055.1:n.*1405+4A>G | |
| ENST00000692830.1:c.*1413+4A>G (RAF1) | ENSP00000509461.1:n.*1413+4A>G | |
| ENST00000693312.1:c.1443+4A>G (RAF1) | ENSP00000508686.1:n.1443+4A>G | |
| ENST00000693664.1:c.*119+4A>G (RAF1) | ENSP00000509614.1:n.*119+4A>G | |
| ENST00000693705.1:c.*1048-137A>G (RAF1) | ENSP00000510697.1:n.*1048-137A>G | |
| ENST00000251849.9:c.1668+4A>G (RAF1) MANE Select | ENSP00000251849.4:n.1668+4A>G | |
| ENST00000442415.7:c.1728+4A>G (RAF1) | ENSP00000401888.2:n.1728+4A>G | |
| ENST00000676541.1:c.*2865T>C (MKRN2) | ENSP00000503730.1:n.*2865T>C | |
| ENST00000677142.1:c.*2865T>C (MKRN2) | ENSP00000504455.1:n.*2865T>C | |
| ENST00000677816.1:c.*1420T>C (MKRN2) | ENSP00000502893.1:n.*1420T>C | |
| ENST00000677941.1:n.2928T>C (MKRN2) | ||
| ENST00000251849.8:c.1668+4A>G (RAF1) | ENSP00000251849.4:n.1668+4A>G | |
| ENST00000423275.5:c.*1345+4A>G (RAF1) | ENSP00000401088.1:n.*1345+4A>G | |
| ENST00000432427.2:c.1305+4A>G (RAF1) | ENSP00000398591.2:n.1305+4A>G | |
| ENST00000442415.6:c.1728+4A>G (RAF1) | ENSP00000401888.2:n.1728+4A>G | |
| ENST00000471449.1:n.357+4A>G (RAF1) | ||
| NM_002880.3:c.1668+4A>G , LRG_413t1:c.1668+4A>G (RAF1) | NP_002871.1:n.1668+4A>G | |
| XM_005265355.1:c.1668+4A>G (RAF1) | XP_005265412.1:n.1668+4A>G | |
| XM_005265357.1:c.1569+4A>G (RAF1) | XP_005265414.1:n.1569+4A>G | |
| XM_005265358.3:c.1425+4A>G (RAF1) | XP_005265415.1:n.1425+4A>G | |
| XM_005265359.3:c.1326+4A>G (RAF1) | XP_005265416.1:n.1326+4A>G | |
| XM_011533974.1:c.1668+4A>G (RAF1) | XP_011532276.1:n.1668+4A>G | |
| XM_011533975.1:c.1425+4A>G (RAF1) | XP_011532277.1:n.1425+4A>G | |
| NM_001354689.1:c.1728+4A>G (RAF1) | NP_001341618.1:n.1728+4A>G | |
| NM_001354690.1:c.1668+4A>G (RAF1) | NP_001341619.1:n.1668+4A>G | |
| NM_001354691.1:c.1425+4A>G (RAF1) | NP_001341620.1:n.1425+4A>G | |
| NM_001354692.1:c.1425+4A>G (RAF1) | NP_001341621.1:n.1425+4A>G | |
| NM_001354693.1:c.1569+4A>G (RAF1) | NP_001341622.1:n.1569+4A>G | |
| NM_001354694.1:c.1485+4A>G (RAF1) | NP_001341623.1:n.1485+4A>G | |
| NM_001354695.1:c.1326+4A>G (RAF1) | NP_001341624.1:n.1326+4A>G | |
| NR_148940.1:n.2196+4A>G (RAF1) | ||
| NR_148941.1:n.2142+4A>G (RAF1) | ||
| NR_148942.1:n.2081+4A>G (RAF1) | ||
| XM_011533974.3:c.1668+4A>G (RAF1) | XP_011532276.1:n.1668+4A>G | |
| XM_017006966.1:c.1569+4A>G (RAF1) | XP_016862455.1:n.1569+4A>G | |
| NM_001354689.3:c.1728+4A>G (RAF1) | NP_001341618.1:n.1728+4A>G | |
| NM_001354690.2:c.1668+4A>G (RAF1) | NP_001341619.1:n.1668+4A>G | |
| NM_001354691.2:c.1425+4A>G (RAF1) | NP_001341620.1:n.1425+4A>G | |
| NM_001354692.2:c.1425+4A>G (RAF1) | NP_001341621.1:n.1425+4A>G | |
| NM_001354693.2:c.1569+4A>G (RAF1) | NP_001341622.1:n.1569+4A>G | |
| NM_001354694.2:c.1485+4A>G (RAF1) | NP_001341623.1:n.1485+4A>G | |
| NM_001354695.2:c.1326+4A>G (RAF1) | NP_001341624.1:n.1326+4A>G | |
| NR_148940.2:n.2112+4A>G (RAF1) | ||
| NR_148941.2:n.2058+4A>G (RAF1) | ||
| NR_148942.2:n.1997+4A>G (RAF1) | ||
| NM_001354690.3:c.1668+4A>G (RAF1) | NP_001341619.1:n.1668+4A>G | |
| NM_001354691.3:c.1425+4A>G (RAF1) | NP_001341620.1:n.1425+4A>G | |
| NM_001354692.3:c.1425+4A>G (RAF1) | NP_001341621.1:n.1425+4A>G | |
| NM_001354693.3:c.1569+4A>G (RAF1) | NP_001341622.1:n.1569+4A>G | |
| NM_001354694.3:c.1485+4A>G (RAF1) | NP_001341623.1:n.1485+4A>G | |
| NM_001354695.3:c.1326+4A>G (RAF1) | NP_001341624.1:n.1326+4A>G | |
| NM_002880.4:c.1668+4A>G (RAF1) MANE Select | NP_002871.1:n.1668+4A>G | |
| NR_148940.3:n.2112+4A>G (RAF1) | ||
| NR_148941.3:n.2058+4A>G (RAF1) | ||
| NR_148942.3:n.1997+4A>G (RAF1) |