Canonical Allele Identifier: CA351495374
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584528G>C , CM000665.2:g.12584528G>C GRCh38
NC_000003.11:g.12626027G>C , CM000665.1:g.12626027G>C GRCh37
NC_000003.10:g.12601027G>C NCBI36
NG_007467.1:g.84652C>G , LRG_413:g.84652C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1598C>G (RAF1) ENSP00000401088.1:n.*1598C>G
ENST00000432427.3:c.1250C>G (RAF1)
ENST00000460610.2:n.6245C>G (RAF1)
ENST00000471449.2:n.743C>G (RAF1)
ENST00000475353.2:n.4213C>G (RAF1)
ENST00000684903.1:c.*1610C>G (RAF1) ENSP00000508612.1:n.*1610C>G
ENST00000685348.1:c.*1644C>G (RAF1) ENSP00000510285.1:n.*1644C>G
ENST00000685437.1:c.1834C>G (RAF1) ENSP00000508794.1:p.Leu612Val
ENST00000685653.1:c.1933C>G (RAF1) ENSP00000509968.1:p.Leu645Val
ENST00000685697.1:n.2668C>G (RAF1)
ENST00000685738.1:c.*897C>G (RAF1) ENSP00000510156.1:n.*897C>G
ENST00000686409.1:n.5342C>G (RAF1)
ENST00000686455.1:n.4654C>G (RAF1)
ENST00000686762.1:c.*492C>G (RAF1) ENSP00000509767.1:n.*492C>G
ENST00000687257.1:n.4387C>G (RAF1)
ENST00000687326.1:c.*3225C>G (RAF1) ENSP00000509665.1:n.*3225C>G
ENST00000687505.1:n.2051C>G (RAF1)
ENST00000687923.1:c.1822C>G (RAF1) ENSP00000510255.1:p.Leu608Val
ENST00000688269.1:n.2529C>G (RAF1)
ENST00000688444.1:n.4050C>G (RAF1)
ENST00000688543.1:c.1834C>G (RAF1) ENSP00000509612.1:p.Leu612Val
ENST00000688625.1:c.*3302C>G (RAF1) ENSP00000509522.1:n.*3302C>G
ENST00000688803.1:n.3361C>G (RAF1)
ENST00000689097.1:c.*1610C>G (RAF1) ENSP00000509756.1:n.*1610C>G
ENST00000689389.1:c.1756C>G (RAF1) ENSP00000510213.1:p.Leu586Val
ENST00000689418.1:c.*3828C>G (RAF1) ENSP00000509467.1:n.*3828C>G
ENST00000689540.1:n.4301C>G (RAF1)
ENST00000689876.1:c.*482C>G (RAF1) ENSP00000508535.1:n.*482C>G
ENST00000689914.1:c.*867C>G (RAF1) ENSP00000509847.1:n.*867C>G
ENST00000690397.1:c.1822C>G (RAF1) ENSP00000508730.1:p.Leu608Val
ENST00000690460.1:c.1921C>G (RAF1) ENSP00000509106.1:p.Leu641Val
ENST00000690585.1:c.659C>G (RAF1)
ENST00000690625.1:n.2969C>G (RAF1)
ENST00000691396.1:c.*1805C>G (RAF1) ENSP00000510712.1:n.*1805C>G
ENST00000691643.1:n.2986C>G (RAF1)
ENST00000691724.1:c.*890C>G (RAF1) ENSP00000509255.1:n.*890C>G
ENST00000691779.1:c.*1511C>G (RAF1) ENSP00000508592.1:n.*1511C>G
ENST00000691888.1:c.807C>G (RAF1)
ENST00000691899.1:c.1933C>G (RAF1) ENSP00000508763.1:p.Leu645Val
ENST00000692069.1:n.4857C>G (RAF1)
ENST00000692093.1:c.1834C>G (RAF1) ENSP00000509669.1:p.Leu612Val
ENST00000692311.1:n.2757C>G (RAF1)
ENST00000692558.1:n.4516C>G (RAF1)
ENST00000692773.1:c.*1670C>G (RAF1) ENSP00000509055.1:n.*1670C>G
ENST00000692830.1:c.*1678C>G (RAF1) ENSP00000509461.1:n.*1678C>G
ENST00000693312.1:c.1708C>G (RAF1) ENSP00000508686.1:p.Leu570Val
ENST00000693664.1:c.*384C>G (RAF1) ENSP00000509614.1:n.*384C>G
ENST00000693705.1:c.*1312C>G (RAF1) ENSP00000510697.1:n.*1312C>G
ENST00000251849.9:c.1933C>G (RAF1) MANE Select ENSP00000251849.4:p.Leu645Val
ENST00000442415.7:c.1993C>G (RAF1) ENSP00000401888.2:p.Leu665Val
ENST00000676541.1:c.*2275G>C (MKRN2) ENSP00000503730.1:n.*2275G>C
ENST00000677142.1:c.*2275G>C (MKRN2) ENSP00000504455.1:n.*2275G>C
ENST00000677816.1:c.*830G>C (MKRN2) ENSP00000502893.1:n.*830G>C
ENST00000677941.1:n.2338G>C (MKRN2)
ENST00000251849.8:c.1933C>G (RAF1) ENSP00000251849.4:p.Leu645Val
ENST00000423275.5:c.*1610C>G (RAF1) ENSP00000401088.1:n.*1610C>G
ENST00000432427.2:c.1570C>G (RAF1) ENSP00000398591.2:p.Leu524Val
ENST00000442415.6:c.1993C>G (RAF1) ENSP00000401888.2:p.Leu665Val
ENST00000471449.1:n.622C>G (RAF1)
NM_002880.3:c.1933C>G , LRG_413t1:c.1933C>G (RAF1) NP_002871.1:p.Leu645Val
XM_005265355.1:c.1933C>G (RAF1) XP_005265412.1:p.Leu645Val
XM_005265357.1:c.1834C>G (RAF1) XP_005265414.1:p.Leu612Val
XM_005265358.3:c.1690C>G (RAF1) XP_005265415.1:p.Leu564Val
XM_005265359.3:c.1591C>G (RAF1) XP_005265416.1:p.Leu531Val
XM_011533974.1:c.1933C>G (RAF1) XP_011532276.1:p.Leu645Val
XM_011533975.1:c.1690C>G (RAF1) XP_011532277.1:p.Leu564Val
NM_001354689.1:c.1993C>G (RAF1) NP_001341618.1:p.Leu665Val
NM_001354690.1:c.1933C>G (RAF1) NP_001341619.1:p.Leu645Val
NM_001354691.1:c.1690C>G (RAF1) NP_001341620.1:p.Leu564Val
NM_001354692.1:c.1690C>G (RAF1) NP_001341621.1:p.Leu564Val
NM_001354693.1:c.1834C>G (RAF1) NP_001341622.1:p.Leu612Val
NM_001354694.1:c.1750C>G (RAF1) NP_001341623.1:p.Leu584Val
NM_001354695.1:c.1591C>G (RAF1) NP_001341624.1:p.Leu531Val
NR_148940.1:n.2461C>G (RAF1)
NR_148941.1:n.2407C>G (RAF1)
NR_148942.1:n.2346C>G (RAF1)
XM_011533974.3:c.1933C>G (RAF1) XP_011532276.1:p.Leu645Val
XM_017006966.1:c.1834C>G (RAF1) XP_016862455.1:p.Leu612Val
NM_001354689.3:c.1993C>G (RAF1) NP_001341618.1:p.Leu665Val
NM_001354690.2:c.1933C>G (RAF1) NP_001341619.1:p.Leu645Val
NM_001354691.2:c.1690C>G (RAF1) NP_001341620.1:p.Leu564Val
NM_001354692.2:c.1690C>G (RAF1) NP_001341621.1:p.Leu564Val
NM_001354693.2:c.1834C>G (RAF1) NP_001341622.1:p.Leu612Val
NM_001354694.2:c.1750C>G (RAF1) NP_001341623.1:p.Leu584Val
NM_001354695.2:c.1591C>G (RAF1) NP_001341624.1:p.Leu531Val
NR_148940.2:n.2377C>G (RAF1)
NR_148941.2:n.2323C>G (RAF1)
NR_148942.2:n.2262C>G (RAF1)
NM_001354690.3:c.1933C>G (RAF1) NP_001341619.1:p.Leu645Val
NM_001354691.3:c.1690C>G (RAF1) NP_001341620.1:p.Leu564Val
NM_001354692.3:c.1690C>G (RAF1) NP_001341621.1:p.Leu564Val
NM_001354693.3:c.1834C>G (RAF1) NP_001341622.1:p.Leu612Val
NM_001354694.3:c.1750C>G (RAF1) NP_001341623.1:p.Leu584Val
NM_001354695.3:c.1591C>G (RAF1) NP_001341624.1:p.Leu531Val
NM_002880.4:c.1933C>G (RAF1) MANE Select NP_002871.1:p.Leu645Val
NR_148940.3:n.2377C>G (RAF1)
NR_148941.3:n.2323C>G (RAF1)
NR_148942.3:n.2262C>G (RAF1)