Canonical Allele Identifier: CA351495461
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584536G>C , CM000665.2:g.12584536G>C GRCh38
NC_000003.11:g.12626035G>C , CM000665.1:g.12626035G>C GRCh37
NC_000003.10:g.12601035G>C NCBI36
NG_007467.1:g.84644C>G , LRG_413:g.84644C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1590C>G (RAF1) ENSP00000401088.1:n.*1590C>G
ENST00000432427.3:c.1242C>G (RAF1)
ENST00000460610.2:n.6237C>G (RAF1)
ENST00000471449.2:n.735C>G (RAF1)
ENST00000475353.2:n.4205C>G (RAF1)
ENST00000684903.1:c.*1602C>G (RAF1) ENSP00000508612.1:n.*1602C>G
ENST00000685348.1:c.*1636C>G (RAF1) ENSP00000510285.1:n.*1636C>G
ENST00000685437.1:c.1826C>G (RAF1) ENSP00000508794.1:p.Ser609Cys
ENST00000685653.1:c.1925C>G (RAF1) ENSP00000509968.1:p.Ser642Cys
ENST00000685697.1:n.2660C>G (RAF1)
ENST00000685738.1:c.*889C>G (RAF1) ENSP00000510156.1:n.*889C>G
ENST00000686409.1:n.5334C>G (RAF1)
ENST00000686455.1:n.4646C>G (RAF1)
ENST00000686762.1:c.*484C>G (RAF1) ENSP00000509767.1:n.*484C>G
ENST00000687257.1:n.4379C>G (RAF1)
ENST00000687326.1:c.*3217C>G (RAF1) ENSP00000509665.1:n.*3217C>G
ENST00000687505.1:n.2043C>G (RAF1)
ENST00000687923.1:c.1814C>G (RAF1) ENSP00000510255.1:p.Ser605Cys
ENST00000688269.1:n.2521C>G (RAF1)
ENST00000688444.1:n.4042C>G (RAF1)
ENST00000688543.1:c.1826C>G (RAF1) ENSP00000509612.1:p.Ser609Cys
ENST00000688625.1:c.*3294C>G (RAF1) ENSP00000509522.1:n.*3294C>G
ENST00000688803.1:n.3353C>G (RAF1)
ENST00000689097.1:c.*1602C>G (RAF1) ENSP00000509756.1:n.*1602C>G
ENST00000689389.1:c.1748C>G (RAF1) ENSP00000510213.1:p.Ser583Cys
ENST00000689418.1:c.*3820C>G (RAF1) ENSP00000509467.1:n.*3820C>G
ENST00000689540.1:n.4293C>G (RAF1)
ENST00000689876.1:c.*474C>G (RAF1) ENSP00000508535.1:n.*474C>G
ENST00000689914.1:c.*859C>G (RAF1) ENSP00000509847.1:n.*859C>G
ENST00000690397.1:c.1814C>G (RAF1) ENSP00000508730.1:p.Ser605Cys
ENST00000690460.1:c.1913C>G (RAF1) ENSP00000509106.1:p.Ser638Cys
ENST00000690585.1:c.651C>G (RAF1)
ENST00000690625.1:n.2961C>G (RAF1)
ENST00000691396.1:c.*1797C>G (RAF1) ENSP00000510712.1:n.*1797C>G
ENST00000691643.1:n.2978C>G (RAF1)
ENST00000691724.1:c.*882C>G (RAF1) ENSP00000509255.1:n.*882C>G
ENST00000691779.1:c.*1503C>G (RAF1) ENSP00000508592.1:n.*1503C>G
ENST00000691888.1:c.799C>G (RAF1)
ENST00000691899.1:c.1925C>G (RAF1) ENSP00000508763.1:p.Ser642Cys
ENST00000692069.1:n.4849C>G (RAF1)
ENST00000692093.1:c.1826C>G (RAF1) ENSP00000509669.1:p.Ser609Cys
ENST00000692311.1:n.2749C>G (RAF1)
ENST00000692558.1:n.4508C>G (RAF1)
ENST00000692773.1:c.*1662C>G (RAF1) ENSP00000509055.1:n.*1662C>G
ENST00000692830.1:c.*1670C>G (RAF1) ENSP00000509461.1:n.*1670C>G
ENST00000693312.1:c.1700C>G (RAF1) ENSP00000508686.1:p.Ser567Cys
ENST00000693664.1:c.*376C>G (RAF1) ENSP00000509614.1:n.*376C>G
ENST00000693705.1:c.*1304C>G (RAF1) ENSP00000510697.1:n.*1304C>G
ENST00000251849.9:c.1925C>G (RAF1) MANE Select ENSP00000251849.4:p.Ser642Cys
ENST00000442415.7:c.1985C>G (RAF1) ENSP00000401888.2:p.Ser662Cys
ENST00000676541.1:c.*2283G>C (MKRN2) ENSP00000503730.1:n.*2283G>C
ENST00000677142.1:c.*2283G>C (MKRN2) ENSP00000504455.1:n.*2283G>C
ENST00000677816.1:c.*838G>C (MKRN2) ENSP00000502893.1:n.*838G>C
ENST00000677941.1:n.2346G>C (MKRN2)
ENST00000251849.8:c.1925C>G (RAF1) ENSP00000251849.4:p.Ser642Cys
ENST00000423275.5:c.*1602C>G (RAF1) ENSP00000401088.1:n.*1602C>G
ENST00000432427.2:c.1562C>G (RAF1) ENSP00000398591.2:p.Ser521Cys
ENST00000442415.6:c.1985C>G (RAF1) ENSP00000401888.2:p.Ser662Cys
ENST00000471449.1:n.614C>G (RAF1)
NM_002880.3:c.1925C>G , LRG_413t1:c.1925C>G (RAF1) NP_002871.1:p.Ser642Cys
XM_005265355.1:c.1925C>G (RAF1) XP_005265412.1:p.Ser642Cys
XM_005265357.1:c.1826C>G (RAF1) XP_005265414.1:p.Ser609Cys
XM_005265358.3:c.1682C>G (RAF1) XP_005265415.1:p.Ser561Cys
XM_005265359.3:c.1583C>G (RAF1) XP_005265416.1:p.Ser528Cys
XM_011533974.1:c.1925C>G (RAF1) XP_011532276.1:p.Ser642Cys
XM_011533975.1:c.1682C>G (RAF1) XP_011532277.1:p.Ser561Cys
NM_001354689.1:c.1985C>G (RAF1) NP_001341618.1:p.Ser662Cys
NM_001354690.1:c.1925C>G (RAF1) NP_001341619.1:p.Ser642Cys
NM_001354691.1:c.1682C>G (RAF1) NP_001341620.1:p.Ser561Cys
NM_001354692.1:c.1682C>G (RAF1) NP_001341621.1:p.Ser561Cys
NM_001354693.1:c.1826C>G (RAF1) NP_001341622.1:p.Ser609Cys
NM_001354694.1:c.1742C>G (RAF1) NP_001341623.1:p.Ser581Cys
NM_001354695.1:c.1583C>G (RAF1) NP_001341624.1:p.Ser528Cys
NR_148940.1:n.2453C>G (RAF1)
NR_148941.1:n.2399C>G (RAF1)
NR_148942.1:n.2338C>G (RAF1)
XM_011533974.3:c.1925C>G (RAF1) XP_011532276.1:p.Ser642Cys
XM_017006966.1:c.1826C>G (RAF1) XP_016862455.1:p.Ser609Cys
NM_001354689.3:c.1985C>G (RAF1) NP_001341618.1:p.Ser662Cys
NM_001354690.2:c.1925C>G (RAF1) NP_001341619.1:p.Ser642Cys
NM_001354691.2:c.1682C>G (RAF1) NP_001341620.1:p.Ser561Cys
NM_001354692.2:c.1682C>G (RAF1) NP_001341621.1:p.Ser561Cys
NM_001354693.2:c.1826C>G (RAF1) NP_001341622.1:p.Ser609Cys
NM_001354694.2:c.1742C>G (RAF1) NP_001341623.1:p.Ser581Cys
NM_001354695.2:c.1583C>G (RAF1) NP_001341624.1:p.Ser528Cys
NR_148940.2:n.2369C>G (RAF1)
NR_148941.2:n.2315C>G (RAF1)
NR_148942.2:n.2254C>G (RAF1)
NM_001354690.3:c.1925C>G (RAF1) NP_001341619.1:p.Ser642Cys
NM_001354691.3:c.1682C>G (RAF1) NP_001341620.1:p.Ser561Cys
NM_001354692.3:c.1682C>G (RAF1) NP_001341621.1:p.Ser561Cys
NM_001354693.3:c.1826C>G (RAF1) NP_001341622.1:p.Ser609Cys
NM_001354694.3:c.1742C>G (RAF1) NP_001341623.1:p.Ser581Cys
NM_001354695.3:c.1583C>G (RAF1) NP_001341624.1:p.Ser528Cys
NM_002880.4:c.1925C>G (RAF1) MANE Select NP_002871.1:p.Ser642Cys
NR_148940.3:n.2369C>G (RAF1)
NR_148941.3:n.2315C>G (RAF1)
NR_148942.3:n.2254C>G (RAF1)