Linked Data
ClinVar Variation Id:
639241
ClinVar RCV Id:
RCV000791987
dbSNP Id:
rs1575530552
gnomAD v4:
3-12584956-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584956T>C , CM000665.2:g.12584956T>C | GRCh38 |
| NC_000003.11:g.12626455T>C , CM000665.1:g.12626455T>C | GRCh37 |
| NC_000003.10:g.12601455T>C | NCBI36 |
| NG_007467.1:g.84224A>G , LRG_413:g.84224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1359A>G (RAF1) | ENSP00000401088.1:n.*1359A>G | |
| ENST00000432427.3:c.1011A>G (RAF1) | ||
| ENST00000460610.2:n.6006A>G (RAF1) | ||
| ENST00000471449.2:n.504A>G (RAF1) | ||
| ENST00000475353.2:n.3974A>G (RAF1) | ||
| ENST00000684903.1:c.*1371A>G (RAF1) | ENSP00000508612.1:n.*1371A>G | |
| ENST00000685348.1:c.*1405A>G (RAF1) | ENSP00000510285.1:n.*1405A>G | |
| ENST00000685437.1:c.1595A>G (RAF1) | ENSP00000508794.1:p.Tyr532Cys | |
| ENST00000685653.1:c.1694A>G (RAF1) | ENSP00000509968.1:p.Tyr565Cys | |
| ENST00000685697.1:n.2429A>G (RAF1) | ||
| ENST00000685738.1:c.*658A>G (RAF1) | ENSP00000510156.1:n.*658A>G | |
| ENST00000686409.1:n.5103A>G (RAF1) | ||
| ENST00000686455.1:n.4415A>G (RAF1) | ||
| ENST00000686762.1:c.*253A>G (RAF1) | ENSP00000509767.1:n.*253A>G | |
| ENST00000687257.1:n.4148A>G (RAF1) | ||
| ENST00000687326.1:c.*2986A>G (RAF1) | ENSP00000509665.1:n.*2986A>G | |
| ENST00000687505.1:n.1812A>G (RAF1) | ||
| ENST00000687923.1:c.1583A>G (RAF1) | ENSP00000510255.1:p.Tyr528Cys | |
| ENST00000688269.1:n.2290A>G (RAF1) | ||
| ENST00000688444.1:n.3811A>G (RAF1) | ||
| ENST00000688543.1:c.1595A>G (RAF1) | ENSP00000509612.1:p.Tyr532Cys | |
| ENST00000688625.1:c.*3063A>G (RAF1) | ENSP00000509522.1:n.*3063A>G | |
| ENST00000688803.1:n.3122A>G (RAF1) | ||
| ENST00000688914.1:n.1107A>G (RAF1) | ||
| ENST00000689097.1:c.*1371A>G (RAF1) | ENSP00000509756.1:n.*1371A>G | |
| ENST00000689389.1:c.1517A>G (RAF1) | ENSP00000510213.1:p.Tyr506Cys | |
| ENST00000689418.1:c.*3589A>G (RAF1) | ENSP00000509467.1:n.*3589A>G | |
| ENST00000689540.1:n.4062A>G (RAF1) | ||
| ENST00000689876.1:c.*243A>G (RAF1) | ENSP00000508535.1:n.*243A>G | |
| ENST00000689914.1:c.*628A>G (RAF1) | ENSP00000509847.1:n.*628A>G | |
| ENST00000690397.1:c.1583A>G (RAF1) | ENSP00000508730.1:p.Tyr528Cys | |
| ENST00000690460.1:c.1682A>G (RAF1) | ENSP00000509106.1:p.Tyr561Cys | |
| ENST00000690585.1:c.420A>G (RAF1) | ||
| ENST00000690625.1:n.2730A>G (RAF1) | ||
| ENST00000691396.1:c.*1566A>G (RAF1) | ENSP00000510712.1:n.*1566A>G | |
| ENST00000691643.1:n.2747A>G (RAF1) | ||
| ENST00000691724.1:c.*651A>G (RAF1) | ENSP00000509255.1:n.*651A>G | |
| ENST00000691779.1:c.*1272A>G (RAF1) | ENSP00000508592.1:n.*1272A>G | |
| ENST00000691888.1:c.568A>G (RAF1) | ||
| ENST00000691899.1:c.1694A>G (RAF1) | ENSP00000508763.1:p.Tyr565Cys | |
| ENST00000692069.1:n.4618A>G (RAF1) | ||
| ENST00000692093.1:c.1595A>G (RAF1) | ENSP00000509669.1:p.Tyr532Cys | |
| ENST00000692311.1:n.2518A>G (RAF1) | ||
| ENST00000692558.1:n.4277A>G (RAF1) | ||
| ENST00000692773.1:c.*1431A>G (RAF1) | ENSP00000509055.1:n.*1431A>G | |
| ENST00000692830.1:c.*1439A>G (RAF1) | ENSP00000509461.1:n.*1439A>G | |
| ENST00000693312.1:c.1469A>G (RAF1) | ENSP00000508686.1:p.Tyr490Cys | |
| ENST00000693664.1:c.*145A>G (RAF1) | ENSP00000509614.1:n.*145A>G | |
| ENST00000693705.1:c.*1073A>G (RAF1) | ENSP00000510697.1:n.*1073A>G | |
| ENST00000251849.9:c.1694A>G (RAF1) MANE Select | ENSP00000251849.4:p.Tyr565Cys | |
| ENST00000442415.7:c.1754A>G (RAF1) | ENSP00000401888.2:p.Tyr585Cys | |
| ENST00000676541.1:c.*2703T>C (MKRN2) | ENSP00000503730.1:n.*2703T>C | |
| ENST00000677142.1:c.*2703T>C (MKRN2) | ENSP00000504455.1:n.*2703T>C | |
| ENST00000677816.1:c.*1258T>C (MKRN2) | ENSP00000502893.1:n.*1258T>C | |
| ENST00000677941.1:n.2766T>C (MKRN2) | ||
| ENST00000251849.8:c.1694A>G (RAF1) | ENSP00000251849.4:p.Tyr565Cys | |
| ENST00000423275.5:c.*1371A>G (RAF1) | ENSP00000401088.1:n.*1371A>G | |
| ENST00000432427.2:c.1331A>G (RAF1) | ENSP00000398591.2:p.Tyr444Cys | |
| ENST00000442415.6:c.1754A>G (RAF1) | ENSP00000401888.2:p.Tyr585Cys | |
| ENST00000471449.1:n.383A>G (RAF1) | ||
| NM_002880.3:c.1694A>G , LRG_413t1:c.1694A>G (RAF1) | NP_002871.1:p.Tyr565Cys | |
| XM_005265355.1:c.1694A>G (RAF1) | XP_005265412.1:p.Tyr565Cys | |
| XM_005265357.1:c.1595A>G (RAF1) | XP_005265414.1:p.Tyr532Cys | |
| XM_005265358.3:c.1451A>G (RAF1) | XP_005265415.1:p.Tyr484Cys | |
| XM_005265359.3:c.1352A>G (RAF1) | XP_005265416.1:p.Tyr451Cys | |
| XM_011533974.1:c.1694A>G (RAF1) | XP_011532276.1:p.Tyr565Cys | |
| XM_011533975.1:c.1451A>G (RAF1) | XP_011532277.1:p.Tyr484Cys | |
| NM_001354689.1:c.1754A>G (RAF1) | NP_001341618.1:p.Tyr585Cys | |
| NM_001354690.1:c.1694A>G (RAF1) | NP_001341619.1:p.Tyr565Cys | |
| NM_001354691.1:c.1451A>G (RAF1) | NP_001341620.1:p.Tyr484Cys | |
| NM_001354692.1:c.1451A>G (RAF1) | NP_001341621.1:p.Tyr484Cys | |
| NM_001354693.1:c.1595A>G (RAF1) | NP_001341622.1:p.Tyr532Cys | |
| NM_001354694.1:c.1511A>G (RAF1) | NP_001341623.1:p.Tyr504Cys | |
| NM_001354695.1:c.1352A>G (RAF1) | NP_001341624.1:p.Tyr451Cys | |
| NR_148940.1:n.2222A>G (RAF1) | ||
| NR_148941.1:n.2168A>G (RAF1) | ||
| NR_148942.1:n.2107A>G (RAF1) | ||
| XM_011533974.3:c.1694A>G (RAF1) | XP_011532276.1:p.Tyr565Cys | |
| XM_017006966.1:c.1595A>G (RAF1) | XP_016862455.1:p.Tyr532Cys | |
| NM_001354689.3:c.1754A>G (RAF1) | NP_001341618.1:p.Tyr585Cys | |
| NM_001354690.2:c.1694A>G (RAF1) | NP_001341619.1:p.Tyr565Cys | |
| NM_001354691.2:c.1451A>G (RAF1) | NP_001341620.1:p.Tyr484Cys | |
| NM_001354692.2:c.1451A>G (RAF1) | NP_001341621.1:p.Tyr484Cys | |
| NM_001354693.2:c.1595A>G (RAF1) | NP_001341622.1:p.Tyr532Cys | |
| NM_001354694.2:c.1511A>G (RAF1) | NP_001341623.1:p.Tyr504Cys | |
| NM_001354695.2:c.1352A>G (RAF1) | NP_001341624.1:p.Tyr451Cys | |
| NR_148940.2:n.2138A>G (RAF1) | ||
| NR_148941.2:n.2084A>G (RAF1) | ||
| NR_148942.2:n.2023A>G (RAF1) | ||
| NM_001354690.3:c.1694A>G (RAF1) | NP_001341619.1:p.Tyr565Cys | |
| NM_001354691.3:c.1451A>G (RAF1) | NP_001341620.1:p.Tyr484Cys | |
| NM_001354692.3:c.1451A>G (RAF1) | NP_001341621.1:p.Tyr484Cys | |
| NM_001354693.3:c.1595A>G (RAF1) | NP_001341622.1:p.Tyr532Cys | |
| NM_001354694.3:c.1511A>G (RAF1) | NP_001341623.1:p.Tyr504Cys | |
| NM_001354695.3:c.1352A>G (RAF1) | NP_001341624.1:p.Tyr451Cys | |
| NM_002880.4:c.1694A>G (RAF1) MANE Select | NP_002871.1:p.Tyr565Cys | |
| NR_148940.3:n.2138A>G (RAF1) | ||
| NR_148941.3:n.2084A>G (RAF1) | ||
| NR_148942.3:n.2023A>G (RAF1) |