Linked Data
ClinVar Variation Id:
229178
ClinVar RCV Id:
RCV000220865
dbSNP Id:
rs876657967
gnomAD v4:
3-12584534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584534G>A , CM000665.2:g.12584534G>A | GRCh38 |
| NC_000003.11:g.12626033G>A , CM000665.1:g.12626033G>A | GRCh37 |
| NC_000003.10:g.12601033G>A | NCBI36 |
| NG_007467.1:g.84646C>T , LRG_413:g.84646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1592C>T (RAF1) | ENSP00000401088.1:n.*1592C>T | |
| ENST00000432427.3:c.1244C>T (RAF1) | ||
| ENST00000460610.2:n.6239C>T (RAF1) | ||
| ENST00000471449.2:n.737C>T (RAF1) | ||
| ENST00000475353.2:n.4207C>T (RAF1) | ||
| ENST00000684903.1:c.*1604C>T (RAF1) | ENSP00000508612.1:n.*1604C>T | |
| ENST00000685348.1:c.*1638C>T (RAF1) | ENSP00000510285.1:n.*1638C>T | |
| ENST00000685437.1:c.1828C>T (RAF1) | ENSP00000508794.1:p.Pro610Ser | |
| ENST00000685653.1:c.1927C>T (RAF1) | ENSP00000509968.1:p.Pro643Ser | |
| ENST00000685697.1:n.2662C>T (RAF1) | ||
| ENST00000685738.1:c.*891C>T (RAF1) | ENSP00000510156.1:n.*891C>T | |
| ENST00000686409.1:n.5336C>T (RAF1) | ||
| ENST00000686455.1:n.4648C>T (RAF1) | ||
| ENST00000686762.1:c.*486C>T (RAF1) | ENSP00000509767.1:n.*486C>T | |
| ENST00000687257.1:n.4381C>T (RAF1) | ||
| ENST00000687326.1:c.*3219C>T (RAF1) | ENSP00000509665.1:n.*3219C>T | |
| ENST00000687505.1:n.2045C>T (RAF1) | ||
| ENST00000687923.1:c.1816C>T (RAF1) | ENSP00000510255.1:p.Pro606Ser | |
| ENST00000688269.1:n.2523C>T (RAF1) | ||
| ENST00000688444.1:n.4044C>T (RAF1) | ||
| ENST00000688543.1:c.1828C>T (RAF1) | ENSP00000509612.1:p.Pro610Ser | |
| ENST00000688625.1:c.*3296C>T (RAF1) | ENSP00000509522.1:n.*3296C>T | |
| ENST00000688803.1:n.3355C>T (RAF1) | ||
| ENST00000689097.1:c.*1604C>T (RAF1) | ENSP00000509756.1:n.*1604C>T | |
| ENST00000689389.1:c.1750C>T (RAF1) | ENSP00000510213.1:p.Pro584Ser | |
| ENST00000689418.1:c.*3822C>T (RAF1) | ENSP00000509467.1:n.*3822C>T | |
| ENST00000689540.1:n.4295C>T (RAF1) | ||
| ENST00000689876.1:c.*476C>T (RAF1) | ENSP00000508535.1:n.*476C>T | |
| ENST00000689914.1:c.*861C>T (RAF1) | ENSP00000509847.1:n.*861C>T | |
| ENST00000690397.1:c.1816C>T (RAF1) | ENSP00000508730.1:p.Pro606Ser | |
| ENST00000690460.1:c.1915C>T (RAF1) | ENSP00000509106.1:p.Pro639Ser | |
| ENST00000690585.1:c.653C>T (RAF1) | ||
| ENST00000690625.1:n.2963C>T (RAF1) | ||
| ENST00000691396.1:c.*1799C>T (RAF1) | ENSP00000510712.1:n.*1799C>T | |
| ENST00000691643.1:n.2980C>T (RAF1) | ||
| ENST00000691724.1:c.*884C>T (RAF1) | ENSP00000509255.1:n.*884C>T | |
| ENST00000691779.1:c.*1505C>T (RAF1) | ENSP00000508592.1:n.*1505C>T | |
| ENST00000691888.1:c.801C>T (RAF1) | ||
| ENST00000691899.1:c.1927C>T (RAF1) | ENSP00000508763.1:p.Pro643Ser | |
| ENST00000692069.1:n.4851C>T (RAF1) | ||
| ENST00000692093.1:c.1828C>T (RAF1) | ENSP00000509669.1:p.Pro610Ser | |
| ENST00000692311.1:n.2751C>T (RAF1) | ||
| ENST00000692558.1:n.4510C>T (RAF1) | ||
| ENST00000692773.1:c.*1664C>T (RAF1) | ENSP00000509055.1:n.*1664C>T | |
| ENST00000692830.1:c.*1672C>T (RAF1) | ENSP00000509461.1:n.*1672C>T | |
| ENST00000693312.1:c.1702C>T (RAF1) | ENSP00000508686.1:p.Pro568Ser | |
| ENST00000693664.1:c.*378C>T (RAF1) | ENSP00000509614.1:n.*378C>T | |
| ENST00000693705.1:c.*1306C>T (RAF1) | ENSP00000510697.1:n.*1306C>T | |
| ENST00000251849.9:c.1927C>T (RAF1) MANE Select | ENSP00000251849.4:p.Pro643Ser | |
| ENST00000442415.7:c.1987C>T (RAF1) | ENSP00000401888.2:p.Pro663Ser | |
| ENST00000676541.1:c.*2281G>A (MKRN2) | ENSP00000503730.1:n.*2281G>A | |
| ENST00000677142.1:c.*2281G>A (MKRN2) | ENSP00000504455.1:n.*2281G>A | |
| ENST00000677816.1:c.*836G>A (MKRN2) | ENSP00000502893.1:n.*836G>A | |
| ENST00000677941.1:n.2344G>A (MKRN2) | ||
| ENST00000251849.8:c.1927C>T (RAF1) | ENSP00000251849.4:p.Pro643Ser | |
| ENST00000423275.5:c.*1604C>T (RAF1) | ENSP00000401088.1:n.*1604C>T | |
| ENST00000432427.2:c.1564C>T (RAF1) | ENSP00000398591.2:p.Pro522Ser | |
| ENST00000442415.6:c.1987C>T (RAF1) | ENSP00000401888.2:p.Pro663Ser | |
| ENST00000471449.1:n.616C>T (RAF1) | ||
| NM_002880.3:c.1927C>T , LRG_413t1:c.1927C>T (RAF1) | NP_002871.1:p.Pro643Ser | |
| XM_005265355.1:c.1927C>T (RAF1) | XP_005265412.1:p.Pro643Ser | |
| XM_005265357.1:c.1828C>T (RAF1) | XP_005265414.1:p.Pro610Ser | |
| XM_005265358.3:c.1684C>T (RAF1) | XP_005265415.1:p.Pro562Ser | |
| XM_005265359.3:c.1585C>T (RAF1) | XP_005265416.1:p.Pro529Ser | |
| XM_011533974.1:c.1927C>T (RAF1) | XP_011532276.1:p.Pro643Ser | |
| XM_011533975.1:c.1684C>T (RAF1) | XP_011532277.1:p.Pro562Ser | |
| NM_001354689.1:c.1987C>T (RAF1) | NP_001341618.1:p.Pro663Ser | |
| NM_001354690.1:c.1927C>T (RAF1) | NP_001341619.1:p.Pro643Ser | |
| NM_001354691.1:c.1684C>T (RAF1) | NP_001341620.1:p.Pro562Ser | |
| NM_001354692.1:c.1684C>T (RAF1) | NP_001341621.1:p.Pro562Ser | |
| NM_001354693.1:c.1828C>T (RAF1) | NP_001341622.1:p.Pro610Ser | |
| NM_001354694.1:c.1744C>T (RAF1) | NP_001341623.1:p.Pro582Ser | |
| NM_001354695.1:c.1585C>T (RAF1) | NP_001341624.1:p.Pro529Ser | |
| NR_148940.1:n.2455C>T (RAF1) | ||
| NR_148941.1:n.2401C>T (RAF1) | ||
| NR_148942.1:n.2340C>T (RAF1) | ||
| XM_011533974.3:c.1927C>T (RAF1) | XP_011532276.1:p.Pro643Ser | |
| XM_017006966.1:c.1828C>T (RAF1) | XP_016862455.1:p.Pro610Ser | |
| NM_001354689.3:c.1987C>T (RAF1) | NP_001341618.1:p.Pro663Ser | |
| NM_001354690.2:c.1927C>T (RAF1) | NP_001341619.1:p.Pro643Ser | |
| NM_001354691.2:c.1684C>T (RAF1) | NP_001341620.1:p.Pro562Ser | |
| NM_001354692.2:c.1684C>T (RAF1) | NP_001341621.1:p.Pro562Ser | |
| NM_001354693.2:c.1828C>T (RAF1) | NP_001341622.1:p.Pro610Ser | |
| NM_001354694.2:c.1744C>T (RAF1) | NP_001341623.1:p.Pro582Ser | |
| NM_001354695.2:c.1585C>T (RAF1) | NP_001341624.1:p.Pro529Ser | |
| NR_148940.2:n.2371C>T (RAF1) | ||
| NR_148941.2:n.2317C>T (RAF1) | ||
| NR_148942.2:n.2256C>T (RAF1) | ||
| NM_001354690.3:c.1927C>T (RAF1) | NP_001341619.1:p.Pro643Ser | |
| NM_001354691.3:c.1684C>T (RAF1) | NP_001341620.1:p.Pro562Ser | |
| NM_001354692.3:c.1684C>T (RAF1) | NP_001341621.1:p.Pro562Ser | |
| NM_001354693.3:c.1828C>T (RAF1) | NP_001341622.1:p.Pro610Ser | |
| NM_001354694.3:c.1744C>T (RAF1) | NP_001341623.1:p.Pro582Ser | |
| NM_001354695.3:c.1585C>T (RAF1) | NP_001341624.1:p.Pro529Ser | |
| NM_002880.4:c.1927C>T (RAF1) MANE Select | NP_002871.1:p.Pro643Ser | |
| NR_148940.3:n.2371C>T (RAF1) | ||
| NR_148941.3:n.2317C>T (RAF1) | ||
| NR_148942.3:n.2256C>T (RAF1) |