ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
RASopathy
VCEP
RASopathy VCEP
Revel Score:
ENST00000251849 (MANE Select)
0.542
ENST00000442415
0.542
ENST00000432427
0.542
ENST00000534997
0.542
ENST00000542177
0.542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584590G>C , CM000665.2:g.12584590G>C | GRCh38 |
| NC_000003.11:g.12626089G>C , CM000665.1:g.12626089G>C | GRCh37 |
| NC_000003.10:g.12601089G>C | NCBI36 |
| NG_007467.1:g.84590C>G , LRG_413:g.84590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1536C>G (RAF1) | ENSP00000401088.1:n.*1536C>G | |
| ENST00000432427.3:c.1188C>G (RAF1) | ||
| ENST00000460610.2:n.6183C>G (RAF1) | ||
| ENST00000471449.2:n.681C>G (RAF1) | ||
| ENST00000475353.2:n.4151C>G (RAF1) | ||
| ENST00000684903.1:c.*1548C>G (RAF1) | ENSP00000508612.1:n.*1548C>G | |
| ENST00000685348.1:c.*1582C>G (RAF1) | ENSP00000510285.1:n.*1582C>G | |
| ENST00000685437.1:c.1772C>G (RAF1) | ENSP00000508794.1:p.Ser591Cys | |
| ENST00000685653.1:c.1871C>G (RAF1) | ENSP00000509968.1:p.Ser624Cys | |
| ENST00000685697.1:n.2606C>G (RAF1) | ||
| ENST00000685738.1:c.*835C>G (RAF1) | ENSP00000510156.1:n.*835C>G | |
| ENST00000686409.1:n.5280C>G (RAF1) | ||
| ENST00000686455.1:n.4592C>G (RAF1) | ||
| ENST00000686762.1:c.*430C>G (RAF1) | ENSP00000509767.1:n.*430C>G | |
| ENST00000687257.1:n.4325C>G (RAF1) | ||
| ENST00000687326.1:c.*3163C>G (RAF1) | ENSP00000509665.1:n.*3163C>G | |
| ENST00000687505.1:n.1989C>G (RAF1) | ||
| ENST00000687923.1:c.1760C>G (RAF1) | ENSP00000510255.1:p.Ser587Cys | |
| ENST00000688269.1:n.2467C>G (RAF1) | ||
| ENST00000688444.1:n.3988C>G (RAF1) | ||
| ENST00000688543.1:c.1772C>G (RAF1) | ENSP00000509612.1:p.Ser591Cys | |
| ENST00000688625.1:c.*3240C>G (RAF1) | ENSP00000509522.1:n.*3240C>G | |
| ENST00000688803.1:n.3299C>G (RAF1) | ||
| ENST00000689097.1:c.*1548C>G (RAF1) | ENSP00000509756.1:n.*1548C>G | |
| ENST00000689389.1:c.1694C>G (RAF1) | ENSP00000510213.1:p.Ser565Cys | |
| ENST00000689418.1:c.*3766C>G (RAF1) | ENSP00000509467.1:n.*3766C>G | |
| ENST00000689540.1:n.4239C>G (RAF1) | ||
| ENST00000689876.1:c.*420C>G (RAF1) | ENSP00000508535.1:n.*420C>G | |
| ENST00000689914.1:c.*805C>G (RAF1) | ENSP00000509847.1:n.*805C>G | |
| ENST00000690397.1:c.1760C>G (RAF1) | ENSP00000508730.1:p.Ser587Cys | |
| ENST00000690460.1:c.1859C>G (RAF1) | ENSP00000509106.1:p.Ser620Cys | |
| ENST00000690585.1:c.597C>G (RAF1) | ||
| ENST00000690625.1:n.2907C>G (RAF1) | ||
| ENST00000691396.1:c.*1743C>G (RAF1) | ENSP00000510712.1:n.*1743C>G | |
| ENST00000691643.1:n.2924C>G (RAF1) | ||
| ENST00000691724.1:c.*828C>G (RAF1) | ENSP00000509255.1:n.*828C>G | |
| ENST00000691779.1:c.*1449C>G (RAF1) | ENSP00000508592.1:n.*1449C>G | |
| ENST00000691888.1:c.745C>G (RAF1) | ||
| ENST00000691899.1:c.1871C>G (RAF1) | ENSP00000508763.1:p.Ser624Cys | |
| ENST00000692069.1:n.4795C>G (RAF1) | ||
| ENST00000692093.1:c.1772C>G (RAF1) | ENSP00000509669.1:p.Ser591Cys | |
| ENST00000692311.1:n.2695C>G (RAF1) | ||
| ENST00000692558.1:n.4454C>G (RAF1) | ||
| ENST00000692773.1:c.*1608C>G (RAF1) | ENSP00000509055.1:n.*1608C>G | |
| ENST00000692830.1:c.*1616C>G (RAF1) | ENSP00000509461.1:n.*1616C>G | |
| ENST00000693312.1:c.1646C>G (RAF1) | ENSP00000508686.1:p.Ser549Cys | |
| ENST00000693664.1:c.*322C>G (RAF1) | ENSP00000509614.1:n.*322C>G | |
| ENST00000693705.1:c.*1250C>G (RAF1) | ENSP00000510697.1:n.*1250C>G | |
| ENST00000251849.9:c.1871C>G (RAF1) MANE Select | ENSP00000251849.4:p.Ser624Cys | |
| ENST00000442415.7:c.1931C>G (RAF1) | ENSP00000401888.2:p.Ser644Cys | |
| ENST00000676541.1:c.*2337G>C (MKRN2) | ENSP00000503730.1:n.*2337G>C | |
| ENST00000677142.1:c.*2337G>C (MKRN2) | ENSP00000504455.1:n.*2337G>C | |
| ENST00000677816.1:c.*892G>C (MKRN2) | ENSP00000502893.1:n.*892G>C | |
| ENST00000677941.1:n.2400G>C (MKRN2) | ||
| ENST00000251849.8:c.1871C>G (RAF1) | ENSP00000251849.4:p.Ser624Cys | |
| ENST00000423275.5:c.*1548C>G (RAF1) | ENSP00000401088.1:n.*1548C>G | |
| ENST00000432427.2:c.1508C>G (RAF1) | ENSP00000398591.2:p.Ser503Cys | |
| ENST00000442415.6:c.1931C>G (RAF1) | ENSP00000401888.2:p.Ser644Cys | |
| ENST00000471449.1:n.560C>G (RAF1) | ||
| NM_002880.3:c.1871C>G , LRG_413t1:c.1871C>G (RAF1) | NP_002871.1:p.Ser624Cys | |
| XM_005265355.1:c.1871C>G (RAF1) | XP_005265412.1:p.Ser624Cys | |
| XM_005265357.1:c.1772C>G (RAF1) | XP_005265414.1:p.Ser591Cys | |
| XM_005265358.3:c.1628C>G (RAF1) | XP_005265415.1:p.Ser543Cys | |
| XM_005265359.3:c.1529C>G (RAF1) | XP_005265416.1:p.Ser510Cys | |
| XM_011533974.1:c.1871C>G (RAF1) | XP_011532276.1:p.Ser624Cys | |
| XM_011533975.1:c.1628C>G (RAF1) | XP_011532277.1:p.Ser543Cys | |
| NM_001354689.1:c.1931C>G (RAF1) | NP_001341618.1:p.Ser644Cys | |
| NM_001354690.1:c.1871C>G (RAF1) | NP_001341619.1:p.Ser624Cys | |
| NM_001354691.1:c.1628C>G (RAF1) | NP_001341620.1:p.Ser543Cys | |
| NM_001354692.1:c.1628C>G (RAF1) | NP_001341621.1:p.Ser543Cys | |
| NM_001354693.1:c.1772C>G (RAF1) | NP_001341622.1:p.Ser591Cys | |
| NM_001354694.1:c.1688C>G (RAF1) | NP_001341623.1:p.Ser563Cys | |
| NM_001354695.1:c.1529C>G (RAF1) | NP_001341624.1:p.Ser510Cys | |
| NR_148940.1:n.2399C>G (RAF1) | ||
| NR_148941.1:n.2345C>G (RAF1) | ||
| NR_148942.1:n.2284C>G (RAF1) | ||
| XM_011533974.3:c.1871C>G (RAF1) | XP_011532276.1:p.Ser624Cys | |
| XM_017006966.1:c.1772C>G (RAF1) | XP_016862455.1:p.Ser591Cys | |
| NM_001354689.3:c.1931C>G (RAF1) | NP_001341618.1:p.Ser644Cys | |
| NM_001354690.2:c.1871C>G (RAF1) | NP_001341619.1:p.Ser624Cys | |
| NM_001354691.2:c.1628C>G (RAF1) | NP_001341620.1:p.Ser543Cys | |
| NM_001354692.2:c.1628C>G (RAF1) | NP_001341621.1:p.Ser543Cys | |
| NM_001354693.2:c.1772C>G (RAF1) | NP_001341622.1:p.Ser591Cys | |
| NM_001354694.2:c.1688C>G (RAF1) | NP_001341623.1:p.Ser563Cys | |
| NM_001354695.2:c.1529C>G (RAF1) | NP_001341624.1:p.Ser510Cys | |
| NR_148940.2:n.2315C>G (RAF1) | ||
| NR_148941.2:n.2261C>G (RAF1) | ||
| NR_148942.2:n.2200C>G (RAF1) | ||
| NM_001354690.3:c.1871C>G (RAF1) | NP_001341619.1:p.Ser624Cys | |
| NM_001354691.3:c.1628C>G (RAF1) | NP_001341620.1:p.Ser543Cys | |
| NM_001354692.3:c.1628C>G (RAF1) | NP_001341621.1:p.Ser543Cys | |
| NM_001354693.3:c.1772C>G (RAF1) | NP_001341622.1:p.Ser591Cys | |
| NM_001354694.3:c.1688C>G (RAF1) | NP_001341623.1:p.Ser563Cys | |
| NM_001354695.3:c.1529C>G (RAF1) | NP_001341624.1:p.Ser510Cys | |
| NM_002880.4:c.1871C>G (RAF1) MANE Select | NP_002871.1:p.Ser624Cys | |
| NR_148940.3:n.2315C>G (RAF1) | ||
| NR_148941.3:n.2261C>G (RAF1) | ||
| NR_148942.3:n.2200C>G (RAF1) |