Canonical Allele Identifier: CA351496094
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584626G>A , CM000665.2:g.12584626G>A GRCh38
NC_000003.11:g.12626125G>A , CM000665.1:g.12626125G>A GRCh37
NC_000003.10:g.12601125G>A NCBI36
NG_007467.1:g.84554C>T , LRG_413:g.84554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1500C>T (RAF1) ENSP00000401088.1:n.*1500C>T
ENST00000432427.3:c.1152C>T (RAF1)
ENST00000460610.2:n.6147C>T (RAF1)
ENST00000471449.2:n.645C>T (RAF1)
ENST00000475353.2:n.4115C>T (RAF1)
ENST00000684903.1:c.*1512C>T (RAF1) ENSP00000508612.1:n.*1512C>T
ENST00000685348.1:c.*1546C>T (RAF1) ENSP00000510285.1:n.*1546C>T
ENST00000685437.1:c.1736C>T (RAF1) ENSP00000508794.1:p.Ser579Phe
ENST00000685653.1:c.1835C>T (RAF1) ENSP00000509968.1:p.Ser612Phe
ENST00000685697.1:n.2570C>T (RAF1)
ENST00000685738.1:c.*799C>T (RAF1) ENSP00000510156.1:n.*799C>T
ENST00000686409.1:n.5244C>T (RAF1)
ENST00000686455.1:n.4556C>T (RAF1)
ENST00000686762.1:c.*394C>T (RAF1) ENSP00000509767.1:n.*394C>T
ENST00000687257.1:n.4289C>T (RAF1)
ENST00000687326.1:c.*3127C>T (RAF1) ENSP00000509665.1:n.*3127C>T
ENST00000687505.1:n.1953C>T (RAF1)
ENST00000687923.1:c.1724C>T (RAF1) ENSP00000510255.1:p.Ser575Phe
ENST00000688269.1:n.2431C>T (RAF1)
ENST00000688444.1:n.3952C>T (RAF1)
ENST00000688543.1:c.1736C>T (RAF1) ENSP00000509612.1:p.Ser579Phe
ENST00000688625.1:c.*3204C>T (RAF1) ENSP00000509522.1:n.*3204C>T
ENST00000688803.1:n.3263C>T (RAF1)
ENST00000689097.1:c.*1512C>T (RAF1) ENSP00000509756.1:n.*1512C>T
ENST00000689389.1:c.1658C>T (RAF1) ENSP00000510213.1:p.Ser553Phe
ENST00000689418.1:c.*3730C>T (RAF1) ENSP00000509467.1:n.*3730C>T
ENST00000689540.1:n.4203C>T (RAF1)
ENST00000689876.1:c.*384C>T (RAF1) ENSP00000508535.1:n.*384C>T
ENST00000689914.1:c.*769C>T (RAF1) ENSP00000509847.1:n.*769C>T
ENST00000690397.1:c.1724C>T (RAF1) ENSP00000508730.1:p.Ser575Phe
ENST00000690460.1:c.1823C>T (RAF1) ENSP00000509106.1:p.Ser608Phe
ENST00000690585.1:c.561C>T (RAF1)
ENST00000690625.1:n.2871C>T (RAF1)
ENST00000691396.1:c.*1707C>T (RAF1) ENSP00000510712.1:n.*1707C>T
ENST00000691643.1:n.2888C>T (RAF1)
ENST00000691724.1:c.*792C>T (RAF1) ENSP00000509255.1:n.*792C>T
ENST00000691779.1:c.*1413C>T (RAF1) ENSP00000508592.1:n.*1413C>T
ENST00000691888.1:c.709C>T (RAF1)
ENST00000691899.1:c.1835C>T (RAF1) ENSP00000508763.1:p.Ser612Phe
ENST00000692069.1:n.4759C>T (RAF1)
ENST00000692093.1:c.1736C>T (RAF1) ENSP00000509669.1:p.Ser579Phe
ENST00000692311.1:n.2659C>T (RAF1)
ENST00000692558.1:n.4418C>T (RAF1)
ENST00000692773.1:c.*1572C>T (RAF1) ENSP00000509055.1:n.*1572C>T
ENST00000692830.1:c.*1580C>T (RAF1) ENSP00000509461.1:n.*1580C>T
ENST00000693312.1:c.1610C>T (RAF1) ENSP00000508686.1:p.Ser537Phe
ENST00000693664.1:c.*286C>T (RAF1) ENSP00000509614.1:n.*286C>T
ENST00000693705.1:c.*1214C>T (RAF1) ENSP00000510697.1:n.*1214C>T
ENST00000251849.9:c.1835C>T (RAF1) MANE Select ENSP00000251849.4:p.Ser612Phe
ENST00000442415.7:c.1895C>T (RAF1) ENSP00000401888.2:p.Ser632Phe
ENST00000676541.1:c.*2373G>A (MKRN2) ENSP00000503730.1:n.*2373G>A
ENST00000677142.1:c.*2373G>A (MKRN2) ENSP00000504455.1:n.*2373G>A
ENST00000677816.1:c.*928G>A (MKRN2) ENSP00000502893.1:n.*928G>A
ENST00000677941.1:n.2436G>A (MKRN2)
ENST00000251849.8:c.1835C>T (RAF1) ENSP00000251849.4:p.Ser612Phe
ENST00000423275.5:c.*1512C>T (RAF1) ENSP00000401088.1:n.*1512C>T
ENST00000432427.2:c.1472C>T (RAF1) ENSP00000398591.2:p.Ser491Phe
ENST00000442415.6:c.1895C>T (RAF1) ENSP00000401888.2:p.Ser632Phe
ENST00000471449.1:n.524C>T (RAF1)
NM_002880.3:c.1835C>T , LRG_413t1:c.1835C>T (RAF1) NP_002871.1:p.Ser612Phe
XM_005265355.1:c.1835C>T (RAF1) XP_005265412.1:p.Ser612Phe
XM_005265357.1:c.1736C>T (RAF1) XP_005265414.1:p.Ser579Phe
XM_005265358.3:c.1592C>T (RAF1) XP_005265415.1:p.Ser531Phe
XM_005265359.3:c.1493C>T (RAF1) XP_005265416.1:p.Ser498Phe
XM_011533974.1:c.1835C>T (RAF1) XP_011532276.1:p.Ser612Phe
XM_011533975.1:c.1592C>T (RAF1) XP_011532277.1:p.Ser531Phe
NM_001354689.1:c.1895C>T (RAF1) NP_001341618.1:p.Ser632Phe
NM_001354690.1:c.1835C>T (RAF1) NP_001341619.1:p.Ser612Phe
NM_001354691.1:c.1592C>T (RAF1) NP_001341620.1:p.Ser531Phe
NM_001354692.1:c.1592C>T (RAF1) NP_001341621.1:p.Ser531Phe
NM_001354693.1:c.1736C>T (RAF1) NP_001341622.1:p.Ser579Phe
NM_001354694.1:c.1652C>T (RAF1) NP_001341623.1:p.Ser551Phe
NM_001354695.1:c.1493C>T (RAF1) NP_001341624.1:p.Ser498Phe
NR_148940.1:n.2363C>T (RAF1)
NR_148941.1:n.2309C>T (RAF1)
NR_148942.1:n.2248C>T (RAF1)
XM_011533974.3:c.1835C>T (RAF1) XP_011532276.1:p.Ser612Phe
XM_017006966.1:c.1736C>T (RAF1) XP_016862455.1:p.Ser579Phe
NM_001354689.3:c.1895C>T (RAF1) NP_001341618.1:p.Ser632Phe
NM_001354690.2:c.1835C>T (RAF1) NP_001341619.1:p.Ser612Phe
NM_001354691.2:c.1592C>T (RAF1) NP_001341620.1:p.Ser531Phe
NM_001354692.2:c.1592C>T (RAF1) NP_001341621.1:p.Ser531Phe
NM_001354693.2:c.1736C>T (RAF1) NP_001341622.1:p.Ser579Phe
NM_001354694.2:c.1652C>T (RAF1) NP_001341623.1:p.Ser551Phe
NM_001354695.2:c.1493C>T (RAF1) NP_001341624.1:p.Ser498Phe
NR_148940.2:n.2279C>T (RAF1)
NR_148941.2:n.2225C>T (RAF1)
NR_148942.2:n.2164C>T (RAF1)
NM_001354690.3:c.1835C>T (RAF1) NP_001341619.1:p.Ser612Phe
NM_001354691.3:c.1592C>T (RAF1) NP_001341620.1:p.Ser531Phe
NM_001354692.3:c.1592C>T (RAF1) NP_001341621.1:p.Ser531Phe
NM_001354693.3:c.1736C>T (RAF1) NP_001341622.1:p.Ser579Phe
NM_001354694.3:c.1652C>T (RAF1) NP_001341623.1:p.Ser551Phe
NM_001354695.3:c.1493C>T (RAF1) NP_001341624.1:p.Ser498Phe
NM_002880.4:c.1835C>T (RAF1) MANE Select NP_002871.1:p.Ser612Phe
NR_148940.3:n.2279C>T (RAF1)
NR_148941.3:n.2225C>T (RAF1)
NR_148942.3:n.2164C>T (RAF1)