Canonical Allele Identifier: CA69602405

Linked Data

ClinVar Variation Id: 2450193
ClinVar RCV Id: RCV003171353
dbSNP Id: rs1051484872

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584628G>A , CM000665.2:g.12584628G>A GRCh38
NC_000003.11:g.12626127G>A , CM000665.1:g.12626127G>A GRCh37
NC_000003.10:g.12601127G>A NCBI36
NG_007467.1:g.84552C>T , LRG_413:g.84552C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000423275.6:c.*1498C>T (RAF1) ENSP00000401088.1:n.*1498C>T
ENST00000432427.3:c.1150C>T (RAF1)
ENST00000460610.2:n.6145C>T (RAF1)
ENST00000471449.2:n.643C>T (RAF1)
ENST00000475353.2:n.4113C>T (RAF1)
ENST00000684903.1:c.*1510C>T (RAF1) ENSP00000508612.1:n.*1510C>T
ENST00000685348.1:c.*1544C>T (RAF1) ENSP00000510285.1:n.*1544C>T
ENST00000685437.1:c.1734C>T (RAF1) ENSP00000508794.1:p.His578=
ENST00000685653.1:c.1833C>T (RAF1) ENSP00000509968.1:p.His611=
ENST00000685697.1:n.2568C>T (RAF1)
ENST00000685738.1:c.*797C>T (RAF1) ENSP00000510156.1:n.*797C>T
ENST00000686409.1:n.5242C>T (RAF1)
ENST00000686455.1:n.4554C>T (RAF1)
ENST00000686762.1:c.*392C>T (RAF1) ENSP00000509767.1:n.*392C>T
ENST00000687257.1:n.4287C>T (RAF1)
ENST00000687326.1:c.*3125C>T (RAF1) ENSP00000509665.1:n.*3125C>T
ENST00000687505.1:n.1951C>T (RAF1)
ENST00000687923.1:c.1722C>T (RAF1) ENSP00000510255.1:p.His574=
ENST00000688269.1:n.2429C>T (RAF1)
ENST00000688444.1:n.3950C>T (RAF1)
ENST00000688543.1:c.1734C>T (RAF1) ENSP00000509612.1:p.His578=
ENST00000688625.1:c.*3202C>T (RAF1) ENSP00000509522.1:n.*3202C>T
ENST00000688803.1:n.3261C>T (RAF1)
ENST00000689097.1:c.*1510C>T (RAF1) ENSP00000509756.1:n.*1510C>T
ENST00000689389.1:c.1656C>T (RAF1) ENSP00000510213.1:p.His552=
ENST00000689418.1:c.*3728C>T (RAF1) ENSP00000509467.1:n.*3728C>T
ENST00000689540.1:n.4201C>T (RAF1)
ENST00000689876.1:c.*382C>T (RAF1) ENSP00000508535.1:n.*382C>T
ENST00000689914.1:c.*767C>T (RAF1) ENSP00000509847.1:n.*767C>T
ENST00000690397.1:c.1722C>T (RAF1) ENSP00000508730.1:p.His574=
ENST00000690460.1:c.1821C>T (RAF1) ENSP00000509106.1:p.His607=
ENST00000690585.1:c.559C>T (RAF1)
ENST00000690625.1:n.2869C>T (RAF1)
ENST00000691396.1:c.*1705C>T (RAF1) ENSP00000510712.1:n.*1705C>T
ENST00000691643.1:n.2886C>T (RAF1)
ENST00000691724.1:c.*790C>T (RAF1) ENSP00000509255.1:n.*790C>T
ENST00000691779.1:c.*1411C>T (RAF1) ENSP00000508592.1:n.*1411C>T
ENST00000691888.1:c.707C>T (RAF1)
ENST00000691899.1:c.1833C>T (RAF1) ENSP00000508763.1:p.His611=
ENST00000692069.1:n.4757C>T (RAF1)
ENST00000692093.1:c.1734C>T (RAF1) ENSP00000509669.1:p.His578=
ENST00000692311.1:n.2657C>T (RAF1)
ENST00000692558.1:n.4416C>T (RAF1)
ENST00000692773.1:c.*1570C>T (RAF1) ENSP00000509055.1:n.*1570C>T
ENST00000692830.1:c.*1578C>T (RAF1) ENSP00000509461.1:n.*1578C>T
ENST00000693312.1:c.1608C>T (RAF1) ENSP00000508686.1:p.His536=
ENST00000693664.1:c.*284C>T (RAF1) ENSP00000509614.1:n.*284C>T
ENST00000693705.1:c.*1212C>T (RAF1) ENSP00000510697.1:n.*1212C>T
ENST00000251849.9:c.1833C>T (RAF1) MANE Select ENSP00000251849.4:p.His611=
ENST00000442415.7:c.1893C>T (RAF1) ENSP00000401888.2:p.His631=
ENST00000676541.1:c.*2375G>A (MKRN2) ENSP00000503730.1:n.*2375G>A
ENST00000677142.1:c.*2375G>A (MKRN2) ENSP00000504455.1:n.*2375G>A
ENST00000677816.1:c.*930G>A (MKRN2) ENSP00000502893.1:n.*930G>A
ENST00000677941.1:n.2438G>A (MKRN2)
ENST00000251849.8:c.1833C>T (RAF1) ENSP00000251849.4:p.His611=
ENST00000423275.5:c.*1510C>T (RAF1) ENSP00000401088.1:n.*1510C>T
ENST00000432427.2:c.1470C>T (RAF1) ENSP00000398591.2:p.His490=
ENST00000442415.6:c.1893C>T (RAF1) ENSP00000401888.2:p.His631=
ENST00000471449.1:n.522C>T (RAF1)
NM_002880.3:c.1833C>T , LRG_413t1:c.1833C>T (RAF1) NP_002871.1:p.His611=
XM_005265355.1:c.1833C>T (RAF1) XP_005265412.1:p.His611=
XM_005265357.1:c.1734C>T (RAF1) XP_005265414.1:p.His578=
XM_005265358.3:c.1590C>T (RAF1) XP_005265415.1:p.His530=
XM_005265359.3:c.1491C>T (RAF1) XP_005265416.1:p.His497=
XM_011533974.1:c.1833C>T (RAF1) XP_011532276.1:p.His611=
XM_011533975.1:c.1590C>T (RAF1) XP_011532277.1:p.His530=
NM_001354689.1:c.1893C>T (RAF1) NP_001341618.1:p.His631=
NM_001354690.1:c.1833C>T (RAF1) NP_001341619.1:p.His611=
NM_001354691.1:c.1590C>T (RAF1) NP_001341620.1:p.His530=
NM_001354692.1:c.1590C>T (RAF1) NP_001341621.1:p.His530=
NM_001354693.1:c.1734C>T (RAF1) NP_001341622.1:p.His578=
NM_001354694.1:c.1650C>T (RAF1) NP_001341623.1:p.His550=
NM_001354695.1:c.1491C>T (RAF1) NP_001341624.1:p.His497=
NR_148940.1:n.2361C>T (RAF1)
NR_148941.1:n.2307C>T (RAF1)
NR_148942.1:n.2246C>T (RAF1)
XM_011533974.3:c.1833C>T (RAF1) XP_011532276.1:p.His611=
XM_017006966.1:c.1734C>T (RAF1) XP_016862455.1:p.His578=
NM_001354689.3:c.1893C>T (RAF1) NP_001341618.1:p.His631=
NM_001354690.2:c.1833C>T (RAF1) NP_001341619.1:p.His611=
NM_001354691.2:c.1590C>T (RAF1) NP_001341620.1:p.His530=
NM_001354692.2:c.1590C>T (RAF1) NP_001341621.1:p.His530=
NM_001354693.2:c.1734C>T (RAF1) NP_001341622.1:p.His578=
NM_001354694.2:c.1650C>T (RAF1) NP_001341623.1:p.His550=
NM_001354695.2:c.1491C>T (RAF1) NP_001341624.1:p.His497=
NR_148940.2:n.2277C>T (RAF1)
NR_148941.2:n.2223C>T (RAF1)
NR_148942.2:n.2162C>T (RAF1)
NM_001354690.3:c.1833C>T (RAF1) NP_001341619.1:p.His611=
NM_001354691.3:c.1590C>T (RAF1) NP_001341620.1:p.His530=
NM_001354692.3:c.1590C>T (RAF1) NP_001341621.1:p.His530=
NM_001354693.3:c.1734C>T (RAF1) NP_001341622.1:p.His578=
NM_001354694.3:c.1650C>T (RAF1) NP_001341623.1:p.His550=
NM_001354695.3:c.1491C>T (RAF1) NP_001341624.1:p.His497=
NM_002880.4:c.1833C>T (RAF1) MANE Select NP_002871.1:p.His611=
NR_148940.3:n.2277C>T (RAF1)
NR_148941.3:n.2223C>T (RAF1)
NR_148942.3:n.2162C>T (RAF1)