Linked Data
ClinVar Variation Id:
1976440
ClinVar RCV Id:
RCV002731414
dbSNP Id:
rs2125316223
gnomAD v4:
3-12584567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584567C>T , CM000665.2:g.12584567C>T | GRCh38 |
| NC_000003.11:g.12626066C>T , CM000665.1:g.12626066C>T | GRCh37 |
| NC_000003.10:g.12601066C>T | NCBI36 |
| NG_007467.1:g.84613G>A , LRG_413:g.84613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1559G>A (RAF1) | ENSP00000401088.1:n.*1559G>A | |
| ENST00000432427.3:c.1211G>A (RAF1) | ||
| ENST00000460610.2:n.6206G>A (RAF1) | ||
| ENST00000471449.2:n.704G>A (RAF1) | ||
| ENST00000475353.2:n.4174G>A (RAF1) | ||
| ENST00000684903.1:c.*1571G>A (RAF1) | ENSP00000508612.1:n.*1571G>A | |
| ENST00000685348.1:c.*1605G>A (RAF1) | ENSP00000510285.1:n.*1605G>A | |
| ENST00000685437.1:c.1795G>A (RAF1) | ENSP00000508794.1:p.Glu599Lys | |
| ENST00000685653.1:c.1894G>A (RAF1) | ENSP00000509968.1:p.Glu632Lys | |
| ENST00000685697.1:n.2629G>A (RAF1) | ||
| ENST00000685738.1:c.*858G>A (RAF1) | ENSP00000510156.1:n.*858G>A | |
| ENST00000686409.1:n.5303G>A (RAF1) | ||
| ENST00000686455.1:n.4615G>A (RAF1) | ||
| ENST00000686762.1:c.*453G>A (RAF1) | ENSP00000509767.1:n.*453G>A | |
| ENST00000687257.1:n.4348G>A (RAF1) | ||
| ENST00000687326.1:c.*3186G>A (RAF1) | ENSP00000509665.1:n.*3186G>A | |
| ENST00000687505.1:n.2012G>A (RAF1) | ||
| ENST00000687923.1:c.1783G>A (RAF1) | ENSP00000510255.1:p.Glu595Lys | |
| ENST00000688269.1:n.2490G>A (RAF1) | ||
| ENST00000688444.1:n.4011G>A (RAF1) | ||
| ENST00000688543.1:c.1795G>A (RAF1) | ENSP00000509612.1:p.Glu599Lys | |
| ENST00000688625.1:c.*3263G>A (RAF1) | ENSP00000509522.1:n.*3263G>A | |
| ENST00000688803.1:n.3322G>A (RAF1) | ||
| ENST00000689097.1:c.*1571G>A (RAF1) | ENSP00000509756.1:n.*1571G>A | |
| ENST00000689389.1:c.1717G>A (RAF1) | ENSP00000510213.1:p.Glu573Lys | |
| ENST00000689418.1:c.*3789G>A (RAF1) | ENSP00000509467.1:n.*3789G>A | |
| ENST00000689540.1:n.4262G>A (RAF1) | ||
| ENST00000689876.1:c.*443G>A (RAF1) | ENSP00000508535.1:n.*443G>A | |
| ENST00000689914.1:c.*828G>A (RAF1) | ENSP00000509847.1:n.*828G>A | |
| ENST00000690397.1:c.1783G>A (RAF1) | ENSP00000508730.1:p.Glu595Lys | |
| ENST00000690460.1:c.1882G>A (RAF1) | ENSP00000509106.1:p.Glu628Lys | |
| ENST00000690585.1:c.620G>A (RAF1) | ||
| ENST00000690625.1:n.2930G>A (RAF1) | ||
| ENST00000691396.1:c.*1766G>A (RAF1) | ENSP00000510712.1:n.*1766G>A | |
| ENST00000691643.1:n.2947G>A (RAF1) | ||
| ENST00000691724.1:c.*851G>A (RAF1) | ENSP00000509255.1:n.*851G>A | |
| ENST00000691779.1:c.*1472G>A (RAF1) | ENSP00000508592.1:n.*1472G>A | |
| ENST00000691888.1:c.768G>A (RAF1) | ||
| ENST00000691899.1:c.1894G>A (RAF1) | ENSP00000508763.1:p.Glu632Lys | |
| ENST00000692069.1:n.4818G>A (RAF1) | ||
| ENST00000692093.1:c.1795G>A (RAF1) | ENSP00000509669.1:p.Glu599Lys | |
| ENST00000692311.1:n.2718G>A (RAF1) | ||
| ENST00000692558.1:n.4477G>A (RAF1) | ||
| ENST00000692773.1:c.*1631G>A (RAF1) | ENSP00000509055.1:n.*1631G>A | |
| ENST00000692830.1:c.*1639G>A (RAF1) | ENSP00000509461.1:n.*1639G>A | |
| ENST00000693312.1:c.1669G>A (RAF1) | ENSP00000508686.1:p.Glu557Lys | |
| ENST00000693664.1:c.*345G>A (RAF1) | ENSP00000509614.1:n.*345G>A | |
| ENST00000693705.1:c.*1273G>A (RAF1) | ENSP00000510697.1:n.*1273G>A | |
| ENST00000251849.9:c.1894G>A (RAF1) MANE Select | ENSP00000251849.4:p.Glu632Lys | |
| ENST00000442415.7:c.1954G>A (RAF1) | ENSP00000401888.2:p.Glu652Lys | |
| ENST00000676541.1:c.*2314C>T (MKRN2) | ENSP00000503730.1:n.*2314C>T | |
| ENST00000677142.1:c.*2314C>T (MKRN2) | ENSP00000504455.1:n.*2314C>T | |
| ENST00000677816.1:c.*869C>T (MKRN2) | ENSP00000502893.1:n.*869C>T | |
| ENST00000677941.1:n.2377C>T (MKRN2) | ||
| ENST00000251849.8:c.1894G>A (RAF1) | ENSP00000251849.4:p.Glu632Lys | |
| ENST00000423275.5:c.*1571G>A (RAF1) | ENSP00000401088.1:n.*1571G>A | |
| ENST00000432427.2:c.1531G>A (RAF1) | ENSP00000398591.2:p.Glu511Lys | |
| ENST00000442415.6:c.1954G>A (RAF1) | ENSP00000401888.2:p.Glu652Lys | |
| ENST00000471449.1:n.583G>A (RAF1) | ||
| NM_002880.3:c.1894G>A , LRG_413t1:c.1894G>A (RAF1) | NP_002871.1:p.Glu632Lys | |
| XM_005265355.1:c.1894G>A (RAF1) | XP_005265412.1:p.Glu632Lys | |
| XM_005265357.1:c.1795G>A (RAF1) | XP_005265414.1:p.Glu599Lys | |
| XM_005265358.3:c.1651G>A (RAF1) | XP_005265415.1:p.Glu551Lys | |
| XM_005265359.3:c.1552G>A (RAF1) | XP_005265416.1:p.Glu518Lys | |
| XM_011533974.1:c.1894G>A (RAF1) | XP_011532276.1:p.Glu632Lys | |
| XM_011533975.1:c.1651G>A (RAF1) | XP_011532277.1:p.Glu551Lys | |
| NM_001354689.1:c.1954G>A (RAF1) | NP_001341618.1:p.Glu652Lys | |
| NM_001354690.1:c.1894G>A (RAF1) | NP_001341619.1:p.Glu632Lys | |
| NM_001354691.1:c.1651G>A (RAF1) | NP_001341620.1:p.Glu551Lys | |
| NM_001354692.1:c.1651G>A (RAF1) | NP_001341621.1:p.Glu551Lys | |
| NM_001354693.1:c.1795G>A (RAF1) | NP_001341622.1:p.Glu599Lys | |
| NM_001354694.1:c.1711G>A (RAF1) | NP_001341623.1:p.Glu571Lys | |
| NM_001354695.1:c.1552G>A (RAF1) | NP_001341624.1:p.Glu518Lys | |
| NR_148940.1:n.2422G>A (RAF1) | ||
| NR_148941.1:n.2368G>A (RAF1) | ||
| NR_148942.1:n.2307G>A (RAF1) | ||
| XM_011533974.3:c.1894G>A (RAF1) | XP_011532276.1:p.Glu632Lys | |
| XM_017006966.1:c.1795G>A (RAF1) | XP_016862455.1:p.Glu599Lys | |
| NM_001354689.3:c.1954G>A (RAF1) | NP_001341618.1:p.Glu652Lys | |
| NM_001354690.2:c.1894G>A (RAF1) | NP_001341619.1:p.Glu632Lys | |
| NM_001354691.2:c.1651G>A (RAF1) | NP_001341620.1:p.Glu551Lys | |
| NM_001354692.2:c.1651G>A (RAF1) | NP_001341621.1:p.Glu551Lys | |
| NM_001354693.2:c.1795G>A (RAF1) | NP_001341622.1:p.Glu599Lys | |
| NM_001354694.2:c.1711G>A (RAF1) | NP_001341623.1:p.Glu571Lys | |
| NM_001354695.2:c.1552G>A (RAF1) | NP_001341624.1:p.Glu518Lys | |
| NR_148940.2:n.2338G>A (RAF1) | ||
| NR_148941.2:n.2284G>A (RAF1) | ||
| NR_148942.2:n.2223G>A (RAF1) | ||
| NM_001354690.3:c.1894G>A (RAF1) | NP_001341619.1:p.Glu632Lys | |
| NM_001354691.3:c.1651G>A (RAF1) | NP_001341620.1:p.Glu551Lys | |
| NM_001354692.3:c.1651G>A (RAF1) | NP_001341621.1:p.Glu551Lys | |
| NM_001354693.3:c.1795G>A (RAF1) | NP_001341622.1:p.Glu599Lys | |
| NM_001354694.3:c.1711G>A (RAF1) | NP_001341623.1:p.Glu571Lys | |
| NM_001354695.3:c.1552G>A (RAF1) | NP_001341624.1:p.Glu518Lys | |
| NM_002880.4:c.1894G>A (RAF1) MANE Select | NP_002871.1:p.Glu632Lys | |
| NR_148940.3:n.2338G>A (RAF1) | ||
| NR_148941.3:n.2284G>A (RAF1) | ||
| NR_148942.3:n.2223G>A (RAF1) |