Canonical Allele Identifier: CA351499110
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585748G>C , CM000665.2:g.12585748G>C GRCh38
NC_000003.11:g.12627247G>C , CM000665.1:g.12627247G>C GRCh37
NC_000003.10:g.12602247G>C NCBI36
NG_007467.1:g.83432C>G , LRG_413:g.83432C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1134C>G (RAF1) ENSP00000401088.1:n.*1134C>G
ENST00000432427.3:c.786C>G (RAF1)
ENST00000460610.2:n.5214C>G (RAF1)
ENST00000471449.2:n.279C>G (RAF1)
ENST00000475353.2:n.3182C>G (RAF1)
ENST00000684903.1:c.*1146C>G (RAF1) ENSP00000508612.1:n.*1146C>G
ENST00000685348.1:c.*1095-342C>G (RAF1) ENSP00000510285.1:n.*1095-342C>G
ENST00000685437.1:c.1370C>G (RAF1) ENSP00000508794.1:p.Ala457Gly
ENST00000685653.1:c.1469C>G (RAF1) ENSP00000509968.1:p.Ala490Gly
ENST00000685697.1:n.2204C>G (RAF1)
ENST00000685738.1:c.*433C>G (RAF1) ENSP00000510156.1:n.*433C>G
ENST00000686409.1:n.4311C>G (RAF1)
ENST00000686455.1:n.3623C>G (RAF1)
ENST00000686762.1:c.*28C>G (RAF1) ENSP00000509767.1:n.*28C>G
ENST00000687257.1:n.3496C>G (RAF1)
ENST00000687326.1:c.*2194C>G (RAF1) ENSP00000509665.1:n.*2194C>G
ENST00000687505.1:n.1587C>G (RAF1)
ENST00000687923.1:c.1358C>G (RAF1) ENSP00000510255.1:p.Ala453Gly
ENST00000688269.1:n.2065C>G (RAF1)
ENST00000688444.1:n.3586C>G (RAF1)
ENST00000688543.1:c.1370C>G (RAF1) ENSP00000509612.1:p.Ala457Gly
ENST00000688625.1:c.*2838C>G (RAF1) ENSP00000509522.1:n.*2838C>G
ENST00000688803.1:n.2965-495C>G (RAF1)
ENST00000688914.1:n.455C>G (RAF1)
ENST00000689097.1:c.*1146C>G (RAF1) ENSP00000509756.1:n.*1146C>G
ENST00000689389.1:c.1292C>G (RAF1) ENSP00000510213.1:p.Ala431Gly
ENST00000689418.1:c.*2937C>G (RAF1) ENSP00000509467.1:n.*2937C>G
ENST00000689540.1:n.3410C>G (RAF1)
ENST00000689876.1:c.1418-342C>G (RAF1) ENSP00000508535.1:n.1418-342C>G
ENST00000689914.1:c.*403C>G (RAF1) ENSP00000509847.1:n.*403C>G
ENST00000690397.1:c.1358C>G (RAF1) ENSP00000508730.1:p.Ala453Gly
ENST00000690460.1:c.1457C>G (RAF1) ENSP00000509106.1:p.Ala486Gly
ENST00000690585.1:c.263-495C>G (RAF1)
ENST00000690625.1:n.2505C>G (RAF1)
ENST00000691396.1:c.*1341C>G (RAF1) ENSP00000510712.1:n.*1341C>G
ENST00000691643.1:n.2095C>G (RAF1)
ENST00000691724.1:c.*426C>G (RAF1) ENSP00000509255.1:n.*426C>G
ENST00000691779.1:c.*1047C>G (RAF1) ENSP00000508592.1:n.*1047C>G
ENST00000691888.1:c.343C>G (RAF1)
ENST00000691899.1:c.1469C>G (RAF1) ENSP00000508763.1:p.Ala490Gly
ENST00000692069.1:n.3826C>G (RAF1)
ENST00000692093.1:c.1370C>G (RAF1) ENSP00000509669.1:p.Ala457Gly
ENST00000692311.1:n.2293C>G (RAF1)
ENST00000692558.1:n.3625C>G (RAF1)
ENST00000692773.1:c.*1206C>G (RAF1) ENSP00000509055.1:n.*1206C>G
ENST00000692830.1:c.*1214C>G (RAF1) ENSP00000509461.1:n.*1214C>G
ENST00000693312.1:c.1244C>G (RAF1) ENSP00000508686.1:p.Ala415Gly
ENST00000693664.1:c.1488-495C>G (RAF1) ENSP00000509614.1:n.1488-495C>G
ENST00000693705.1:c.*1048-767C>G (RAF1) ENSP00000510697.1:n.*1048-767C>G
ENST00000251849.9:c.1469C>G (RAF1) MANE Select ENSP00000251849.4:p.Ala490Gly
ENST00000442415.7:c.1529C>G (RAF1) ENSP00000401888.2:p.Ala510Gly
ENST00000676541.1:c.*3495G>C (MKRN2) ENSP00000503730.1:n.*3495G>C
ENST00000677142.1:c.*3495G>C (MKRN2) ENSP00000504455.1:n.*3495G>C
ENST00000677816.1:c.*2050G>C (MKRN2) ENSP00000502893.1:n.*2050G>C
ENST00000677941.1:n.3558G>C (MKRN2)
ENST00000251849.8:c.1469C>G (RAF1) ENSP00000251849.4:p.Ala490Gly
ENST00000423275.5:c.*1146C>G (RAF1) ENSP00000401088.1:n.*1146C>G
ENST00000432427.2:c.1106C>G (RAF1) ENSP00000398591.2:p.Ala369Gly
ENST00000442415.6:c.1529C>G (RAF1) ENSP00000401888.2:p.Ala510Gly
ENST00000471449.1:n.158C>G (RAF1)
NM_002880.3:c.1469C>G , LRG_413t1:c.1469C>G (RAF1) NP_002871.1:p.Ala490Gly
XM_005265355.1:c.1469C>G (RAF1) XP_005265412.1:p.Ala490Gly
XM_005265357.1:c.1370C>G (RAF1) XP_005265414.1:p.Ala457Gly
XM_005265358.3:c.1226C>G (RAF1) XP_005265415.1:p.Ala409Gly
XM_005265359.3:c.1127C>G (RAF1) XP_005265416.1:p.Ala376Gly
XM_005265360.1:c.1418-342C>G (RAF1) XP_005265417.1:n.1418-342C>G
XM_011533974.1:c.1469C>G (RAF1) XP_011532276.1:p.Ala490Gly
XM_011533975.1:c.1226C>G (RAF1) XP_011532277.1:p.Ala409Gly
NM_001354689.1:c.1529C>G (RAF1) NP_001341618.1:p.Ala510Gly
NM_001354690.1:c.1469C>G (RAF1) NP_001341619.1:p.Ala490Gly
NM_001354691.1:c.1226C>G (RAF1) NP_001341620.1:p.Ala409Gly
NM_001354692.1:c.1226C>G (RAF1) NP_001341621.1:p.Ala409Gly
NM_001354693.1:c.1370C>G (RAF1) NP_001341622.1:p.Ala457Gly
NM_001354694.1:c.1286C>G (RAF1) NP_001341623.1:p.Ala429Gly
NM_001354695.1:c.1127C>G (RAF1) NP_001341624.1:p.Ala376Gly
NR_148940.1:n.1997C>G (RAF1)
NR_148941.1:n.1943C>G (RAF1)
NR_148942.1:n.1882C>G (RAF1)
XM_011533974.3:c.1469C>G (RAF1) XP_011532276.1:p.Ala490Gly
XM_017006966.1:c.1370C>G (RAF1) XP_016862455.1:p.Ala457Gly
NM_001354689.3:c.1529C>G (RAF1) NP_001341618.1:p.Ala510Gly
NM_001354690.2:c.1469C>G (RAF1) NP_001341619.1:p.Ala490Gly
NM_001354691.2:c.1226C>G (RAF1) NP_001341620.1:p.Ala409Gly
NM_001354692.2:c.1226C>G (RAF1) NP_001341621.1:p.Ala409Gly
NM_001354693.2:c.1370C>G (RAF1) NP_001341622.1:p.Ala457Gly
NM_001354694.2:c.1286C>G (RAF1) NP_001341623.1:p.Ala429Gly
NM_001354695.2:c.1127C>G (RAF1) NP_001341624.1:p.Ala376Gly
NR_148940.2:n.1913C>G (RAF1)
NR_148941.2:n.1859C>G (RAF1)
NR_148942.2:n.1798C>G (RAF1)
NM_001354690.3:c.1469C>G (RAF1) NP_001341619.1:p.Ala490Gly
NM_001354691.3:c.1226C>G (RAF1) NP_001341620.1:p.Ala409Gly
NM_001354692.3:c.1226C>G (RAF1) NP_001341621.1:p.Ala409Gly
NM_001354693.3:c.1370C>G (RAF1) NP_001341622.1:p.Ala457Gly
NM_001354694.3:c.1286C>G (RAF1) NP_001341623.1:p.Ala429Gly
NM_001354695.3:c.1127C>G (RAF1) NP_001341624.1:p.Ala376Gly
NM_002880.4:c.1469C>G (RAF1) MANE Select NP_002871.1:p.Ala490Gly
NR_148940.3:n.1913C>G (RAF1)
NR_148941.3:n.1859C>G (RAF1)
NR_148942.3:n.1798C>G (RAF1)