Linked Data
dbSNP Id:
rs5746244
ExAC:
3:12626660 C / G
gnomAD v2:
3-12626660-C-G
gnomAD v3:
3-12585161-C-G
gnomAD v4:
3-12585161-C-G
ERepo:
CA235376/MONDO:0021060/004
PubMed:
PMID:18553519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585161C>G , CM000665.2:g.12585161C>G | GRCh38 |
| NC_000003.11:g.12626660C>G , CM000665.1:g.12626660C>G | GRCh37 |
| NC_000003.10:g.12601660C>G | NCBI36 |
| NG_007467.1:g.84019G>C , LRG_413:g.84019G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1294G>C (RAF1) | ENSP00000401088.1:n.*1294G>C | |
| ENST00000432427.3:c.946G>C (RAF1) | ||
| ENST00000460610.2:n.5801G>C (RAF1) | ||
| ENST00000471449.2:n.439G>C (RAF1) | ||
| ENST00000475353.2:n.3769G>C (RAF1) | ||
| ENST00000684903.1:c.*1306G>C (RAF1) | ENSP00000508612.1:n.*1306G>C | |
| ENST00000685348.1:c.*1340G>C (RAF1) | ENSP00000510285.1:n.*1340G>C | |
| ENST00000685437.1:c.1530G>C (RAF1) | ENSP00000508794.1:p.Thr510= | |
| ENST00000685653.1:c.1629G>C (RAF1) | ENSP00000509968.1:p.Thr543= | |
| ENST00000685697.1:n.2364G>C (RAF1) | ||
| ENST00000685738.1:c.*593G>C (RAF1) | ENSP00000510156.1:n.*593G>C | |
| ENST00000686409.1:n.4898G>C (RAF1) | ||
| ENST00000686455.1:n.4210G>C (RAF1) | ||
| ENST00000686762.1:c.*188G>C (RAF1) | ENSP00000509767.1:n.*188G>C | |
| ENST00000687257.1:n.4083G>C (RAF1) | ||
| ENST00000687326.1:c.*2781G>C (RAF1) | ENSP00000509665.1:n.*2781G>C | |
| ENST00000687505.1:n.1747G>C (RAF1) | ||
| ENST00000687923.1:c.1518G>C (RAF1) | ENSP00000510255.1:p.Thr506= | |
| ENST00000688269.1:n.2225G>C (RAF1) | ||
| ENST00000688444.1:n.3746G>C (RAF1) | ||
| ENST00000688543.1:c.1530G>C (RAF1) | ENSP00000509612.1:p.Thr510= | |
| ENST00000688625.1:c.*2998G>C (RAF1) | ENSP00000509522.1:n.*2998G>C | |
| ENST00000688803.1:n.3057G>C (RAF1) | ||
| ENST00000688914.1:n.1042G>C (RAF1) | ||
| ENST00000689097.1:c.*1306G>C (RAF1) | ENSP00000509756.1:n.*1306G>C | |
| ENST00000689389.1:c.1452G>C (RAF1) | ENSP00000510213.1:p.Thr484= | |
| ENST00000689418.1:c.*3524G>C (RAF1) | ENSP00000509467.1:n.*3524G>C | |
| ENST00000689540.1:n.3997G>C (RAF1) | ||
| ENST00000689876.1:c.*178G>C (RAF1) | ENSP00000508535.1:n.*178G>C | |
| ENST00000689914.1:c.*563G>C (RAF1) | ENSP00000509847.1:n.*563G>C | |
| ENST00000690397.1:c.1518G>C (RAF1) | ENSP00000508730.1:p.Thr506= | |
| ENST00000690460.1:c.1617G>C (RAF1) | ENSP00000509106.1:p.Thr539= | |
| ENST00000690585.1:c.355G>C (RAF1) | ||
| ENST00000690625.1:n.2665G>C (RAF1) | ||
| ENST00000691396.1:c.*1501G>C (RAF1) | ENSP00000510712.1:n.*1501G>C | |
| ENST00000691643.1:n.2682G>C (RAF1) | ||
| ENST00000691724.1:c.*586G>C (RAF1) | ENSP00000509255.1:n.*586G>C | |
| ENST00000691779.1:c.*1207G>C (RAF1) | ENSP00000508592.1:n.*1207G>C | |
| ENST00000691888.1:c.503G>C (RAF1) | ||
| ENST00000691899.1:c.1629G>C (RAF1) | ENSP00000508763.1:p.Thr543= | |
| ENST00000692069.1:n.4413G>C (RAF1) | ||
| ENST00000692093.1:c.1530G>C (RAF1) | ENSP00000509669.1:p.Thr510= | |
| ENST00000692311.1:n.2453G>C (RAF1) | ||
| ENST00000692558.1:n.4212G>C (RAF1) | ||
| ENST00000692773.1:c.*1366G>C (RAF1) | ENSP00000509055.1:n.*1366G>C | |
| ENST00000692830.1:c.*1374G>C (RAF1) | ENSP00000509461.1:n.*1374G>C | |
| ENST00000693312.1:c.1404G>C (RAF1) | ENSP00000508686.1:p.Thr468= | |
| ENST00000693664.1:c.*80G>C (RAF1) | ENSP00000509614.1:n.*80G>C | |
| ENST00000693705.1:c.*1048-180G>C (RAF1) | ENSP00000510697.1:n.*1048-180G>C | |
| ENST00000251849.9:c.1629G>C (RAF1) MANE Select | ENSP00000251849.4:p.Thr543= | |
| ENST00000442415.7:c.1689G>C (RAF1) | ENSP00000401888.2:p.Thr563= | |
| ENST00000676541.1:c.*2908C>G (MKRN2) | ENSP00000503730.1:n.*2908C>G | |
| ENST00000677142.1:c.*2908C>G (MKRN2) | ENSP00000504455.1:n.*2908C>G | |
| ENST00000677816.1:c.*1463C>G (MKRN2) | ENSP00000502893.1:n.*1463C>G | |
| ENST00000677941.1:n.2971C>G (MKRN2) | ||
| ENST00000251849.8:c.1629G>C (RAF1) | ENSP00000251849.4:p.Thr543= | |
| ENST00000423275.5:c.*1306G>C (RAF1) | ENSP00000401088.1:n.*1306G>C | |
| ENST00000432427.2:c.1266G>C (RAF1) | ENSP00000398591.2:p.Thr422= | |
| ENST00000442415.6:c.1689G>C (RAF1) | ENSP00000401888.2:p.Thr563= | |
| ENST00000471449.1:n.318G>C (RAF1) | ||
| NM_002880.3:c.1629G>C , LRG_413t1:c.1629G>C (RAF1) | NP_002871.1:p.Thr543= | |
| XM_005265355.1:c.1629G>C (RAF1) | XP_005265412.1:p.Thr543= | |
| XM_005265357.1:c.1530G>C (RAF1) | XP_005265414.1:p.Thr510= | |
| XM_005265358.3:c.1386G>C (RAF1) | XP_005265415.1:p.Thr462= | |
| XM_005265359.3:c.1287G>C (RAF1) | XP_005265416.1:p.Thr429= | |
| XM_011533974.1:c.1629G>C (RAF1) | XP_011532276.1:p.Thr543= | |
| XM_011533975.1:c.1386G>C (RAF1) | XP_011532277.1:p.Thr462= | |
| NM_001354689.1:c.1689G>C (RAF1) | NP_001341618.1:p.Thr563= | |
| NM_001354690.1:c.1629G>C (RAF1) | NP_001341619.1:p.Thr543= | |
| NM_001354691.1:c.1386G>C (RAF1) | NP_001341620.1:p.Thr462= | |
| NM_001354692.1:c.1386G>C (RAF1) | NP_001341621.1:p.Thr462= | |
| NM_001354693.1:c.1530G>C (RAF1) | NP_001341622.1:p.Thr510= | |
| NM_001354694.1:c.1446G>C (RAF1) | NP_001341623.1:p.Thr482= | |
| NM_001354695.1:c.1287G>C (RAF1) | NP_001341624.1:p.Thr429= | |
| NR_148940.1:n.2157G>C (RAF1) | ||
| NR_148941.1:n.2103G>C (RAF1) | ||
| NR_148942.1:n.2042G>C (RAF1) | ||
| XM_011533974.3:c.1629G>C (RAF1) | XP_011532276.1:p.Thr543= | |
| XM_017006966.1:c.1530G>C (RAF1) | XP_016862455.1:p.Thr510= | |
| NM_001354689.3:c.1689G>C (RAF1) | NP_001341618.1:p.Thr563= | |
| NM_001354690.2:c.1629G>C (RAF1) | NP_001341619.1:p.Thr543= | |
| NM_001354691.2:c.1386G>C (RAF1) | NP_001341620.1:p.Thr462= | |
| NM_001354692.2:c.1386G>C (RAF1) | NP_001341621.1:p.Thr462= | |
| NM_001354693.2:c.1530G>C (RAF1) | NP_001341622.1:p.Thr510= | |
| NM_001354694.2:c.1446G>C (RAF1) | NP_001341623.1:p.Thr482= | |
| NM_001354695.2:c.1287G>C (RAF1) | NP_001341624.1:p.Thr429= | |
| NR_148940.2:n.2073G>C (RAF1) | ||
| NR_148941.2:n.2019G>C (RAF1) | ||
| NR_148942.2:n.1958G>C (RAF1) | ||
| NM_001354690.3:c.1629G>C (RAF1) | NP_001341619.1:p.Thr543= | |
| NM_001354691.3:c.1386G>C (RAF1) | NP_001341620.1:p.Thr462= | |
| NM_001354692.3:c.1386G>C (RAF1) | NP_001341621.1:p.Thr462= | |
| NM_001354693.3:c.1530G>C (RAF1) | NP_001341622.1:p.Thr510= | |
| NM_001354694.3:c.1446G>C (RAF1) | NP_001341623.1:p.Thr482= | |
| NM_001354695.3:c.1287G>C (RAF1) | NP_001341624.1:p.Thr429= | |
| NM_002880.4:c.1629G>C (RAF1) MANE Select | NP_002871.1:p.Thr543= | |
| NR_148940.3:n.2073G>C (RAF1) | ||
| NR_148941.3:n.2019G>C (RAF1) | ||
| NR_148942.3:n.1958G>C (RAF1) |