Linked Data
ClinVar Variation Id:
1971876
ClinVar RCV Id:
RCV002750174
dbSNP Id:
rs748925179
ExAC:
3:12626149 G / A
gnomAD v3:
3-12584650-G-A
gnomAD v4:
3-12584650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584650G>A , CM000665.2:g.12584650G>A | GRCh38 |
| NC_000003.11:g.12626149G>A , CM000665.1:g.12626149G>A | GRCh37 |
| NC_000003.10:g.12601149G>A | NCBI36 |
| NG_007467.1:g.84530C>T , LRG_413:g.84530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1476C>T (RAF1) | ENSP00000401088.1:n.*1476C>T | |
| ENST00000432427.3:c.1128C>T (RAF1) | ||
| ENST00000460610.2:n.6123C>T (RAF1) | ||
| ENST00000471449.2:n.621C>T (RAF1) | ||
| ENST00000475353.2:n.4091C>T (RAF1) | ||
| ENST00000684903.1:c.*1488C>T (RAF1) | ENSP00000508612.1:n.*1488C>T | |
| ENST00000685348.1:c.*1522C>T (RAF1) | ENSP00000510285.1:n.*1522C>T | |
| ENST00000685437.1:c.1712C>T (RAF1) | ENSP00000508794.1:p.Ser571Phe | |
| ENST00000685653.1:c.1811C>T (RAF1) | ENSP00000509968.1:p.Ser604Phe | |
| ENST00000685697.1:n.2546C>T (RAF1) | ||
| ENST00000685738.1:c.*775C>T (RAF1) | ENSP00000510156.1:n.*775C>T | |
| ENST00000686409.1:n.5220C>T (RAF1) | ||
| ENST00000686455.1:n.4532C>T (RAF1) | ||
| ENST00000686762.1:c.*370C>T (RAF1) | ENSP00000509767.1:n.*370C>T | |
| ENST00000687257.1:n.4265C>T (RAF1) | ||
| ENST00000687326.1:c.*3103C>T (RAF1) | ENSP00000509665.1:n.*3103C>T | |
| ENST00000687505.1:n.1929C>T (RAF1) | ||
| ENST00000687923.1:c.1700C>T (RAF1) | ENSP00000510255.1:p.Ser567Phe | |
| ENST00000688269.1:n.2407C>T (RAF1) | ||
| ENST00000688444.1:n.3928C>T (RAF1) | ||
| ENST00000688543.1:c.1712C>T (RAF1) | ENSP00000509612.1:p.Ser571Phe | |
| ENST00000688625.1:c.*3180C>T (RAF1) | ENSP00000509522.1:n.*3180C>T | |
| ENST00000688803.1:n.3239C>T (RAF1) | ||
| ENST00000689097.1:c.*1488C>T (RAF1) | ENSP00000509756.1:n.*1488C>T | |
| ENST00000689389.1:c.1634C>T (RAF1) | ENSP00000510213.1:p.Ser545Phe | |
| ENST00000689418.1:c.*3706C>T (RAF1) | ENSP00000509467.1:n.*3706C>T | |
| ENST00000689540.1:n.4179C>T (RAF1) | ||
| ENST00000689876.1:c.*360C>T (RAF1) | ENSP00000508535.1:n.*360C>T | |
| ENST00000689914.1:c.*745C>T (RAF1) | ENSP00000509847.1:n.*745C>T | |
| ENST00000690397.1:c.1700C>T (RAF1) | ENSP00000508730.1:p.Ser567Phe | |
| ENST00000690460.1:c.1799C>T (RAF1) | ENSP00000509106.1:p.Ser600Phe | |
| ENST00000690585.1:c.537C>T (RAF1) | ||
| ENST00000690625.1:n.2847C>T (RAF1) | ||
| ENST00000691396.1:c.*1683C>T (RAF1) | ENSP00000510712.1:n.*1683C>T | |
| ENST00000691643.1:n.2864C>T (RAF1) | ||
| ENST00000691724.1:c.*768C>T (RAF1) | ENSP00000509255.1:n.*768C>T | |
| ENST00000691779.1:c.*1389C>T (RAF1) | ENSP00000508592.1:n.*1389C>T | |
| ENST00000691888.1:c.685C>T (RAF1) | ||
| ENST00000691899.1:c.1811C>T (RAF1) | ENSP00000508763.1:p.Ser604Phe | |
| ENST00000692069.1:n.4735C>T (RAF1) | ||
| ENST00000692093.1:c.1712C>T (RAF1) | ENSP00000509669.1:p.Ser571Phe | |
| ENST00000692311.1:n.2635C>T (RAF1) | ||
| ENST00000692558.1:n.4394C>T (RAF1) | ||
| ENST00000692773.1:c.*1548C>T (RAF1) | ENSP00000509055.1:n.*1548C>T | |
| ENST00000692830.1:c.*1556C>T (RAF1) | ENSP00000509461.1:n.*1556C>T | |
| ENST00000693312.1:c.1586C>T (RAF1) | ENSP00000508686.1:p.Ser529Phe | |
| ENST00000693664.1:c.*262C>T (RAF1) | ENSP00000509614.1:n.*262C>T | |
| ENST00000693705.1:c.*1190C>T (RAF1) | ENSP00000510697.1:n.*1190C>T | |
| ENST00000251849.9:c.1811C>T (RAF1) MANE Select | ENSP00000251849.4:p.Ser604Phe | |
| ENST00000442415.7:c.1871C>T (RAF1) | ENSP00000401888.2:p.Ser624Phe | |
| ENST00000676541.1:c.*2397G>A (MKRN2) | ENSP00000503730.1:n.*2397G>A | |
| ENST00000677142.1:c.*2397G>A (MKRN2) | ENSP00000504455.1:n.*2397G>A | |
| ENST00000677816.1:c.*952G>A (MKRN2) | ENSP00000502893.1:n.*952G>A | |
| ENST00000677941.1:n.2460G>A (MKRN2) | ||
| ENST00000251849.8:c.1811C>T (RAF1) | ENSP00000251849.4:p.Ser604Phe | |
| ENST00000423275.5:c.*1488C>T (RAF1) | ENSP00000401088.1:n.*1488C>T | |
| ENST00000432427.2:c.1448C>T (RAF1) | ENSP00000398591.2:p.Ser483Phe | |
| ENST00000442415.6:c.1871C>T (RAF1) | ENSP00000401888.2:p.Ser624Phe | |
| ENST00000471449.1:n.500C>T (RAF1) | ||
| NM_002880.3:c.1811C>T , LRG_413t1:c.1811C>T (RAF1) | NP_002871.1:p.Ser604Phe | |
| XM_005265355.1:c.1811C>T (RAF1) | XP_005265412.1:p.Ser604Phe | |
| XM_005265357.1:c.1712C>T (RAF1) | XP_005265414.1:p.Ser571Phe | |
| XM_005265358.3:c.1568C>T (RAF1) | XP_005265415.1:p.Ser523Phe | |
| XM_005265359.3:c.1469C>T (RAF1) | XP_005265416.1:p.Ser490Phe | |
| XM_011533974.1:c.1811C>T (RAF1) | XP_011532276.1:p.Ser604Phe | |
| XM_011533975.1:c.1568C>T (RAF1) | XP_011532277.1:p.Ser523Phe | |
| NM_001354689.1:c.1871C>T (RAF1) | NP_001341618.1:p.Ser624Phe | |
| NM_001354690.1:c.1811C>T (RAF1) | NP_001341619.1:p.Ser604Phe | |
| NM_001354691.1:c.1568C>T (RAF1) | NP_001341620.1:p.Ser523Phe | |
| NM_001354692.1:c.1568C>T (RAF1) | NP_001341621.1:p.Ser523Phe | |
| NM_001354693.1:c.1712C>T (RAF1) | NP_001341622.1:p.Ser571Phe | |
| NM_001354694.1:c.1628C>T (RAF1) | NP_001341623.1:p.Ser543Phe | |
| NM_001354695.1:c.1469C>T (RAF1) | NP_001341624.1:p.Ser490Phe | |
| NR_148940.1:n.2339C>T (RAF1) | ||
| NR_148941.1:n.2285C>T (RAF1) | ||
| NR_148942.1:n.2224C>T (RAF1) | ||
| XM_011533974.3:c.1811C>T (RAF1) | XP_011532276.1:p.Ser604Phe | |
| XM_017006966.1:c.1712C>T (RAF1) | XP_016862455.1:p.Ser571Phe | |
| NM_001354689.3:c.1871C>T (RAF1) | NP_001341618.1:p.Ser624Phe | |
| NM_001354690.2:c.1811C>T (RAF1) | NP_001341619.1:p.Ser604Phe | |
| NM_001354691.2:c.1568C>T (RAF1) | NP_001341620.1:p.Ser523Phe | |
| NM_001354692.2:c.1568C>T (RAF1) | NP_001341621.1:p.Ser523Phe | |
| NM_001354693.2:c.1712C>T (RAF1) | NP_001341622.1:p.Ser571Phe | |
| NM_001354694.2:c.1628C>T (RAF1) | NP_001341623.1:p.Ser543Phe | |
| NM_001354695.2:c.1469C>T (RAF1) | NP_001341624.1:p.Ser490Phe | |
| NR_148940.2:n.2255C>T (RAF1) | ||
| NR_148941.2:n.2201C>T (RAF1) | ||
| NR_148942.2:n.2140C>T (RAF1) | ||
| NM_001354690.3:c.1811C>T (RAF1) | NP_001341619.1:p.Ser604Phe | |
| NM_001354691.3:c.1568C>T (RAF1) | NP_001341620.1:p.Ser523Phe | |
| NM_001354692.3:c.1568C>T (RAF1) | NP_001341621.1:p.Ser523Phe | |
| NM_001354693.3:c.1712C>T (RAF1) | NP_001341622.1:p.Ser571Phe | |
| NM_001354694.3:c.1628C>T (RAF1) | NP_001341623.1:p.Ser543Phe | |
| NM_001354695.3:c.1469C>T (RAF1) | NP_001341624.1:p.Ser490Phe | |
| NM_002880.4:c.1811C>T (RAF1) MANE Select | NP_002871.1:p.Ser604Phe | |
| NR_148940.3:n.2255C>T (RAF1) | ||
| NR_148941.3:n.2201C>T (RAF1) | ||
| NR_148942.3:n.2140C>T (RAF1) |