Canonical Allele Identifier: CA351496151
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584635A>C , CM000665.2:g.12584635A>C GRCh38
NC_000003.11:g.12626134A>C , CM000665.1:g.12626134A>C GRCh37
NC_000003.10:g.12601134A>C NCBI36
NG_007467.1:g.84545T>G , LRG_413:g.84545T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1491T>G (RAF1) ENSP00000401088.1:n.*1491T>G
ENST00000432427.3:c.1143T>G (RAF1)
ENST00000460610.2:n.6138T>G (RAF1)
ENST00000471449.2:n.636T>G (RAF1)
ENST00000475353.2:n.4106T>G (RAF1)
ENST00000684903.1:c.*1503T>G (RAF1) ENSP00000508612.1:n.*1503T>G
ENST00000685348.1:c.*1537T>G (RAF1) ENSP00000510285.1:n.*1537T>G
ENST00000685437.1:c.1727T>G (RAF1) ENSP00000508794.1:p.Leu576Arg
ENST00000685653.1:c.1826T>G (RAF1) ENSP00000509968.1:p.Leu609Arg
ENST00000685697.1:n.2561T>G (RAF1)
ENST00000685738.1:c.*790T>G (RAF1) ENSP00000510156.1:n.*790T>G
ENST00000686409.1:n.5235T>G (RAF1)
ENST00000686455.1:n.4547T>G (RAF1)
ENST00000686762.1:c.*385T>G (RAF1) ENSP00000509767.1:n.*385T>G
ENST00000687257.1:n.4280T>G (RAF1)
ENST00000687326.1:c.*3118T>G (RAF1) ENSP00000509665.1:n.*3118T>G
ENST00000687505.1:n.1944T>G (RAF1)
ENST00000687923.1:c.1715T>G (RAF1) ENSP00000510255.1:p.Leu572Arg
ENST00000688269.1:n.2422T>G (RAF1)
ENST00000688444.1:n.3943T>G (RAF1)
ENST00000688543.1:c.1727T>G (RAF1) ENSP00000509612.1:p.Leu576Arg
ENST00000688625.1:c.*3195T>G (RAF1) ENSP00000509522.1:n.*3195T>G
ENST00000688803.1:n.3254T>G (RAF1)
ENST00000689097.1:c.*1503T>G (RAF1) ENSP00000509756.1:n.*1503T>G
ENST00000689389.1:c.1649T>G (RAF1) ENSP00000510213.1:p.Leu550Arg
ENST00000689418.1:c.*3721T>G (RAF1) ENSP00000509467.1:n.*3721T>G
ENST00000689540.1:n.4194T>G (RAF1)
ENST00000689876.1:c.*375T>G (RAF1) ENSP00000508535.1:n.*375T>G
ENST00000689914.1:c.*760T>G (RAF1) ENSP00000509847.1:n.*760T>G
ENST00000690397.1:c.1715T>G (RAF1) ENSP00000508730.1:p.Leu572Arg
ENST00000690460.1:c.1814T>G (RAF1) ENSP00000509106.1:p.Leu605Arg
ENST00000690585.1:c.552T>G (RAF1)
ENST00000690625.1:n.2862T>G (RAF1)
ENST00000691396.1:c.*1698T>G (RAF1) ENSP00000510712.1:n.*1698T>G
ENST00000691643.1:n.2879T>G (RAF1)
ENST00000691724.1:c.*783T>G (RAF1) ENSP00000509255.1:n.*783T>G
ENST00000691779.1:c.*1404T>G (RAF1) ENSP00000508592.1:n.*1404T>G
ENST00000691888.1:c.700T>G (RAF1)
ENST00000691899.1:c.1826T>G (RAF1) ENSP00000508763.1:p.Leu609Arg
ENST00000692069.1:n.4750T>G (RAF1)
ENST00000692093.1:c.1727T>G (RAF1) ENSP00000509669.1:p.Leu576Arg
ENST00000692311.1:n.2650T>G (RAF1)
ENST00000692558.1:n.4409T>G (RAF1)
ENST00000692773.1:c.*1563T>G (RAF1) ENSP00000509055.1:n.*1563T>G
ENST00000692830.1:c.*1571T>G (RAF1) ENSP00000509461.1:n.*1571T>G
ENST00000693312.1:c.1601T>G (RAF1) ENSP00000508686.1:p.Leu534Arg
ENST00000693664.1:c.*277T>G (RAF1) ENSP00000509614.1:n.*277T>G
ENST00000693705.1:c.*1205T>G (RAF1) ENSP00000510697.1:n.*1205T>G
ENST00000251849.9:c.1826T>G (RAF1) MANE Select ENSP00000251849.4:p.Leu609Arg
ENST00000442415.7:c.1886T>G (RAF1) ENSP00000401888.2:p.Leu629Arg
ENST00000676541.1:c.*2382A>C (MKRN2) ENSP00000503730.1:n.*2382A>C
ENST00000677142.1:c.*2382A>C (MKRN2) ENSP00000504455.1:n.*2382A>C
ENST00000677816.1:c.*937A>C (MKRN2) ENSP00000502893.1:n.*937A>C
ENST00000677941.1:n.2445A>C (MKRN2)
ENST00000251849.8:c.1826T>G (RAF1) ENSP00000251849.4:p.Leu609Arg
ENST00000423275.5:c.*1503T>G (RAF1) ENSP00000401088.1:n.*1503T>G
ENST00000432427.2:c.1463T>G (RAF1) ENSP00000398591.2:p.Leu488Arg
ENST00000442415.6:c.1886T>G (RAF1) ENSP00000401888.2:p.Leu629Arg
ENST00000471449.1:n.515T>G (RAF1)
NM_002880.3:c.1826T>G , LRG_413t1:c.1826T>G (RAF1) NP_002871.1:p.Leu609Arg
XM_005265355.1:c.1826T>G (RAF1) XP_005265412.1:p.Leu609Arg
XM_005265357.1:c.1727T>G (RAF1) XP_005265414.1:p.Leu576Arg
XM_005265358.3:c.1583T>G (RAF1) XP_005265415.1:p.Leu528Arg
XM_005265359.3:c.1484T>G (RAF1) XP_005265416.1:p.Leu495Arg
XM_011533974.1:c.1826T>G (RAF1) XP_011532276.1:p.Leu609Arg
XM_011533975.1:c.1583T>G (RAF1) XP_011532277.1:p.Leu528Arg
NM_001354689.1:c.1886T>G (RAF1) NP_001341618.1:p.Leu629Arg
NM_001354690.1:c.1826T>G (RAF1) NP_001341619.1:p.Leu609Arg
NM_001354691.1:c.1583T>G (RAF1) NP_001341620.1:p.Leu528Arg
NM_001354692.1:c.1583T>G (RAF1) NP_001341621.1:p.Leu528Arg
NM_001354693.1:c.1727T>G (RAF1) NP_001341622.1:p.Leu576Arg
NM_001354694.1:c.1643T>G (RAF1) NP_001341623.1:p.Leu548Arg
NM_001354695.1:c.1484T>G (RAF1) NP_001341624.1:p.Leu495Arg
NR_148940.1:n.2354T>G (RAF1)
NR_148941.1:n.2300T>G (RAF1)
NR_148942.1:n.2239T>G (RAF1)
XM_011533974.3:c.1826T>G (RAF1) XP_011532276.1:p.Leu609Arg
XM_017006966.1:c.1727T>G (RAF1) XP_016862455.1:p.Leu576Arg
NM_001354689.3:c.1886T>G (RAF1) NP_001341618.1:p.Leu629Arg
NM_001354690.2:c.1826T>G (RAF1) NP_001341619.1:p.Leu609Arg
NM_001354691.2:c.1583T>G (RAF1) NP_001341620.1:p.Leu528Arg
NM_001354692.2:c.1583T>G (RAF1) NP_001341621.1:p.Leu528Arg
NM_001354693.2:c.1727T>G (RAF1) NP_001341622.1:p.Leu576Arg
NM_001354694.2:c.1643T>G (RAF1) NP_001341623.1:p.Leu548Arg
NM_001354695.2:c.1484T>G (RAF1) NP_001341624.1:p.Leu495Arg
NR_148940.2:n.2270T>G (RAF1)
NR_148941.2:n.2216T>G (RAF1)
NR_148942.2:n.2155T>G (RAF1)
NM_001354690.3:c.1826T>G (RAF1) NP_001341619.1:p.Leu609Arg
NM_001354691.3:c.1583T>G (RAF1) NP_001341620.1:p.Leu528Arg
NM_001354692.3:c.1583T>G (RAF1) NP_001341621.1:p.Leu528Arg
NM_001354693.3:c.1727T>G (RAF1) NP_001341622.1:p.Leu576Arg
NM_001354694.3:c.1643T>G (RAF1) NP_001341623.1:p.Leu548Arg
NM_001354695.3:c.1484T>G (RAF1) NP_001341624.1:p.Leu495Arg
NM_002880.4:c.1826T>G (RAF1) MANE Select NP_002871.1:p.Leu609Arg
NR_148940.3:n.2270T>G (RAF1)
NR_148941.3:n.2216T>G (RAF1)
NR_148942.3:n.2155T>G (RAF1)