Linked Data
ClinVar Variation Id:
40628
ClinVar RCV Id:
RCV000037684
RCV000242024
RCV000279428
RCV000402345
RCV000519653
RCV001705628
RCV001813274
dbSNP Id:
rs144876026
ExAC:
3:12626046 C / T
gnomAD v2:
3-12626046-C-T
gnomAD v3:
3-12584547-C-T
gnomAD v4:
3-12584547-C-T
ERepo:
CA134715/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584547C>T , CM000665.2:g.12584547C>T | GRCh38 |
| NC_000003.11:g.12626046C>T , CM000665.1:g.12626046C>T | GRCh37 |
| NC_000003.10:g.12601046C>T | NCBI36 |
| NG_007467.1:g.84633G>A , LRG_413:g.84633G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1579G>A (RAF1) | ENSP00000401088.1:n.*1579G>A | |
| ENST00000432427.3:c.1231G>A (RAF1) | ||
| ENST00000460610.2:n.6226G>A (RAF1) | ||
| ENST00000471449.2:n.724G>A (RAF1) | ||
| ENST00000475353.2:n.4194G>A (RAF1) | ||
| ENST00000684903.1:c.*1591G>A (RAF1) | ENSP00000508612.1:n.*1591G>A | |
| ENST00000685348.1:c.*1625G>A (RAF1) | ENSP00000510285.1:n.*1625G>A | |
| ENST00000685437.1:c.1815G>A (RAF1) | ENSP00000508794.1:p.Thr605= | |
| ENST00000685653.1:c.1914G>A (RAF1) | ENSP00000509968.1:p.Thr638= | |
| ENST00000685697.1:n.2649G>A (RAF1) | ||
| ENST00000685738.1:c.*878G>A (RAF1) | ENSP00000510156.1:n.*878G>A | |
| ENST00000686409.1:n.5323G>A (RAF1) | ||
| ENST00000686455.1:n.4635G>A (RAF1) | ||
| ENST00000686762.1:c.*473G>A (RAF1) | ENSP00000509767.1:n.*473G>A | |
| ENST00000687257.1:n.4368G>A (RAF1) | ||
| ENST00000687326.1:c.*3206G>A (RAF1) | ENSP00000509665.1:n.*3206G>A | |
| ENST00000687505.1:n.2032G>A (RAF1) | ||
| ENST00000687923.1:c.1803G>A (RAF1) | ENSP00000510255.1:p.Thr601= | |
| ENST00000688269.1:n.2510G>A (RAF1) | ||
| ENST00000688444.1:n.4031G>A (RAF1) | ||
| ENST00000688543.1:c.1815G>A (RAF1) | ENSP00000509612.1:p.Thr605= | |
| ENST00000688625.1:c.*3283G>A (RAF1) | ENSP00000509522.1:n.*3283G>A | |
| ENST00000688803.1:n.3342G>A (RAF1) | ||
| ENST00000689097.1:c.*1591G>A (RAF1) | ENSP00000509756.1:n.*1591G>A | |
| ENST00000689389.1:c.1737G>A (RAF1) | ENSP00000510213.1:p.Thr579= | |
| ENST00000689418.1:c.*3809G>A (RAF1) | ENSP00000509467.1:n.*3809G>A | |
| ENST00000689540.1:n.4282G>A (RAF1) | ||
| ENST00000689876.1:c.*463G>A (RAF1) | ENSP00000508535.1:n.*463G>A | |
| ENST00000689914.1:c.*848G>A (RAF1) | ENSP00000509847.1:n.*848G>A | |
| ENST00000690397.1:c.1803G>A (RAF1) | ENSP00000508730.1:p.Thr601= | |
| ENST00000690460.1:c.1902G>A (RAF1) | ENSP00000509106.1:p.Thr634= | |
| ENST00000690585.1:c.640G>A (RAF1) | ||
| ENST00000690625.1:n.2950G>A (RAF1) | ||
| ENST00000691396.1:c.*1786G>A (RAF1) | ENSP00000510712.1:n.*1786G>A | |
| ENST00000691643.1:n.2967G>A (RAF1) | ||
| ENST00000691724.1:c.*871G>A (RAF1) | ENSP00000509255.1:n.*871G>A | |
| ENST00000691779.1:c.*1492G>A (RAF1) | ENSP00000508592.1:n.*1492G>A | |
| ENST00000691888.1:c.788G>A (RAF1) | ||
| ENST00000691899.1:c.1914G>A (RAF1) | ENSP00000508763.1:p.Thr638= | |
| ENST00000692069.1:n.4838G>A (RAF1) | ||
| ENST00000692093.1:c.1815G>A (RAF1) | ENSP00000509669.1:p.Thr605= | |
| ENST00000692311.1:n.2738G>A (RAF1) | ||
| ENST00000692558.1:n.4497G>A (RAF1) | ||
| ENST00000692773.1:c.*1651G>A (RAF1) | ENSP00000509055.1:n.*1651G>A | |
| ENST00000692830.1:c.*1659G>A (RAF1) | ENSP00000509461.1:n.*1659G>A | |
| ENST00000693312.1:c.1689G>A (RAF1) | ENSP00000508686.1:p.Thr563= | |
| ENST00000693664.1:c.*365G>A (RAF1) | ENSP00000509614.1:n.*365G>A | |
| ENST00000693705.1:c.*1293G>A (RAF1) | ENSP00000510697.1:n.*1293G>A | |
| ENST00000251849.9:c.1914G>A (RAF1) MANE Select | ENSP00000251849.4:p.Thr638= | |
| ENST00000442415.7:c.1974G>A (RAF1) | ENSP00000401888.2:p.Thr658= | |
| ENST00000676541.1:c.*2294C>T (MKRN2) | ENSP00000503730.1:n.*2294C>T | |
| ENST00000677142.1:c.*2294C>T (MKRN2) | ENSP00000504455.1:n.*2294C>T | |
| ENST00000677816.1:c.*849C>T (MKRN2) | ENSP00000502893.1:n.*849C>T | |
| ENST00000677941.1:n.2357C>T (MKRN2) | ||
| ENST00000251849.8:c.1914G>A (RAF1) | ENSP00000251849.4:p.Thr638= | |
| ENST00000423275.5:c.*1591G>A (RAF1) | ENSP00000401088.1:n.*1591G>A | |
| ENST00000432427.2:c.1551G>A (RAF1) | ENSP00000398591.2:p.Thr517= | |
| ENST00000442415.6:c.1974G>A (RAF1) | ENSP00000401888.2:p.Thr658= | |
| ENST00000471449.1:n.603G>A (RAF1) | ||
| NM_002880.3:c.1914G>A , LRG_413t1:c.1914G>A (RAF1) | NP_002871.1:p.Thr638= | |
| XM_005265355.1:c.1914G>A (RAF1) | XP_005265412.1:p.Thr638= | |
| XM_005265357.1:c.1815G>A (RAF1) | XP_005265414.1:p.Thr605= | |
| XM_005265358.3:c.1671G>A (RAF1) | XP_005265415.1:p.Thr557= | |
| XM_005265359.3:c.1572G>A (RAF1) | XP_005265416.1:p.Thr524= | |
| XM_011533974.1:c.1914G>A (RAF1) | XP_011532276.1:p.Thr638= | |
| XM_011533975.1:c.1671G>A (RAF1) | XP_011532277.1:p.Thr557= | |
| NM_001354689.1:c.1974G>A (RAF1) | NP_001341618.1:p.Thr658= | |
| NM_001354690.1:c.1914G>A (RAF1) | NP_001341619.1:p.Thr638= | |
| NM_001354691.1:c.1671G>A (RAF1) | NP_001341620.1:p.Thr557= | |
| NM_001354692.1:c.1671G>A (RAF1) | NP_001341621.1:p.Thr557= | |
| NM_001354693.1:c.1815G>A (RAF1) | NP_001341622.1:p.Thr605= | |
| NM_001354694.1:c.1731G>A (RAF1) | NP_001341623.1:p.Thr577= | |
| NM_001354695.1:c.1572G>A (RAF1) | NP_001341624.1:p.Thr524= | |
| NR_148940.1:n.2442G>A (RAF1) | ||
| NR_148941.1:n.2388G>A (RAF1) | ||
| NR_148942.1:n.2327G>A (RAF1) | ||
| XM_011533974.3:c.1914G>A (RAF1) | XP_011532276.1:p.Thr638= | |
| XM_017006966.1:c.1815G>A (RAF1) | XP_016862455.1:p.Thr605= | |
| NM_001354689.3:c.1974G>A (RAF1) | NP_001341618.1:p.Thr658= | |
| NM_001354690.2:c.1914G>A (RAF1) | NP_001341619.1:p.Thr638= | |
| NM_001354691.2:c.1671G>A (RAF1) | NP_001341620.1:p.Thr557= | |
| NM_001354692.2:c.1671G>A (RAF1) | NP_001341621.1:p.Thr557= | |
| NM_001354693.2:c.1815G>A (RAF1) | NP_001341622.1:p.Thr605= | |
| NM_001354694.2:c.1731G>A (RAF1) | NP_001341623.1:p.Thr577= | |
| NM_001354695.2:c.1572G>A (RAF1) | NP_001341624.1:p.Thr524= | |
| NR_148940.2:n.2358G>A (RAF1) | ||
| NR_148941.2:n.2304G>A (RAF1) | ||
| NR_148942.2:n.2243G>A (RAF1) | ||
| NM_001354690.3:c.1914G>A (RAF1) | NP_001341619.1:p.Thr638= | |
| NM_001354691.3:c.1671G>A (RAF1) | NP_001341620.1:p.Thr557= | |
| NM_001354692.3:c.1671G>A (RAF1) | NP_001341621.1:p.Thr557= | |
| NM_001354693.3:c.1815G>A (RAF1) | NP_001341622.1:p.Thr605= | |
| NM_001354694.3:c.1731G>A (RAF1) | NP_001341623.1:p.Thr577= | |
| NM_001354695.3:c.1572G>A (RAF1) | NP_001341624.1:p.Thr524= | |
| NM_002880.4:c.1914G>A (RAF1) MANE Select | NP_002871.1:p.Thr638= | |
| NR_148940.3:n.2358G>A (RAF1) | ||
| NR_148941.3:n.2304G>A (RAF1) | ||
| NR_148942.3:n.2243G>A (RAF1) |