Canonical Allele Identifier: CA351495335
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584524G>T , CM000665.2:g.12584524G>T GRCh38
NC_000003.11:g.12626023G>T , CM000665.1:g.12626023G>T GRCh37
NC_000003.10:g.12601023G>T NCBI36
NG_007467.1:g.84656C>A , LRG_413:g.84656C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1602C>A (RAF1) ENSP00000401088.1:n.*1602C>A
ENST00000432427.3:c.1254C>A (RAF1)
ENST00000460610.2:n.6249C>A (RAF1)
ENST00000471449.2:n.747C>A (RAF1)
ENST00000475353.2:n.4217C>A (RAF1)
ENST00000684903.1:c.*1614C>A (RAF1) ENSP00000508612.1:n.*1614C>A
ENST00000685348.1:c.*1648C>A (RAF1) ENSP00000510285.1:n.*1648C>A
ENST00000685437.1:c.1838C>A (RAF1) ENSP00000508794.1:p.Pro613His
ENST00000685653.1:c.1937C>A (RAF1) ENSP00000509968.1:p.Pro646His
ENST00000685697.1:n.2672C>A (RAF1)
ENST00000685738.1:c.*901C>A (RAF1) ENSP00000510156.1:n.*901C>A
ENST00000686409.1:n.5346C>A (RAF1)
ENST00000686455.1:n.4658C>A (RAF1)
ENST00000686762.1:c.*496C>A (RAF1) ENSP00000509767.1:n.*496C>A
ENST00000687257.1:n.4391C>A (RAF1)
ENST00000687326.1:c.*3229C>A (RAF1) ENSP00000509665.1:n.*3229C>A
ENST00000687505.1:n.2055C>A (RAF1)
ENST00000687923.1:c.1826C>A (RAF1) ENSP00000510255.1:p.Pro609His
ENST00000688269.1:n.2533C>A (RAF1)
ENST00000688444.1:n.4054C>A (RAF1)
ENST00000688543.1:c.1838C>A (RAF1) ENSP00000509612.1:p.Pro613His
ENST00000688625.1:c.*3306C>A (RAF1) ENSP00000509522.1:n.*3306C>A
ENST00000688803.1:n.3365C>A (RAF1)
ENST00000689097.1:c.*1614C>A (RAF1) ENSP00000509756.1:n.*1614C>A
ENST00000689389.1:c.1760C>A (RAF1) ENSP00000510213.1:p.Pro587His
ENST00000689418.1:c.*3832C>A (RAF1) ENSP00000509467.1:n.*3832C>A
ENST00000689540.1:n.4305C>A (RAF1)
ENST00000689876.1:c.*486C>A (RAF1) ENSP00000508535.1:n.*486C>A
ENST00000689914.1:c.*871C>A (RAF1) ENSP00000509847.1:n.*871C>A
ENST00000690397.1:c.1826C>A (RAF1) ENSP00000508730.1:p.Pro609His
ENST00000690460.1:c.1925C>A (RAF1) ENSP00000509106.1:p.Pro642His
ENST00000690585.1:c.663C>A (RAF1)
ENST00000690625.1:n.2973C>A (RAF1)
ENST00000691396.1:c.*1809C>A (RAF1) ENSP00000510712.1:n.*1809C>A
ENST00000691643.1:n.2990C>A (RAF1)
ENST00000691724.1:c.*894C>A (RAF1) ENSP00000509255.1:n.*894C>A
ENST00000691779.1:c.*1515C>A (RAF1) ENSP00000508592.1:n.*1515C>A
ENST00000691888.1:c.811C>A (RAF1)
ENST00000691899.1:c.1937C>A (RAF1) ENSP00000508763.1:p.Pro646His
ENST00000692069.1:n.4861C>A (RAF1)
ENST00000692093.1:c.1838C>A (RAF1) ENSP00000509669.1:p.Pro613His
ENST00000692311.1:n.2761C>A (RAF1)
ENST00000692558.1:n.4520C>A (RAF1)
ENST00000692773.1:c.*1674C>A (RAF1) ENSP00000509055.1:n.*1674C>A
ENST00000692830.1:c.*1682C>A (RAF1) ENSP00000509461.1:n.*1682C>A
ENST00000693312.1:c.1712C>A (RAF1) ENSP00000508686.1:p.Pro571His
ENST00000693664.1:c.*388C>A (RAF1) ENSP00000509614.1:n.*388C>A
ENST00000693705.1:c.*1316C>A (RAF1) ENSP00000510697.1:n.*1316C>A
ENST00000251849.9:c.1937C>A (RAF1) MANE Select ENSP00000251849.4:p.Pro646His
ENST00000442415.7:c.1997C>A (RAF1) ENSP00000401888.2:p.Pro666His
ENST00000676541.1:c.*2271G>T (MKRN2) ENSP00000503730.1:n.*2271G>T
ENST00000677142.1:c.*2271G>T (MKRN2) ENSP00000504455.1:n.*2271G>T
ENST00000677816.1:c.*826G>T (MKRN2) ENSP00000502893.1:n.*826G>T
ENST00000677941.1:n.2334G>T (MKRN2)
ENST00000251849.8:c.1937C>A (RAF1) ENSP00000251849.4:p.Pro646His
ENST00000423275.5:c.*1614C>A (RAF1) ENSP00000401088.1:n.*1614C>A
ENST00000432427.2:c.1574C>A (RAF1) ENSP00000398591.2:p.Pro525His
ENST00000442415.6:c.1997C>A (RAF1) ENSP00000401888.2:p.Pro666His
ENST00000471449.1:n.626C>A (RAF1)
NM_002880.3:c.1937C>A , LRG_413t1:c.1937C>A (RAF1) NP_002871.1:p.Pro646His
XM_005265355.1:c.1937C>A (RAF1) XP_005265412.1:p.Pro646His
XM_005265357.1:c.1838C>A (RAF1) XP_005265414.1:p.Pro613His
XM_005265358.3:c.1694C>A (RAF1) XP_005265415.1:p.Pro565His
XM_005265359.3:c.1595C>A (RAF1) XP_005265416.1:p.Pro532His
XM_011533974.1:c.1937C>A (RAF1) XP_011532276.1:p.Pro646His
XM_011533975.1:c.1694C>A (RAF1) XP_011532277.1:p.Pro565His
NM_001354689.1:c.1997C>A (RAF1) NP_001341618.1:p.Pro666His
NM_001354690.1:c.1937C>A (RAF1) NP_001341619.1:p.Pro646His
NM_001354691.1:c.1694C>A (RAF1) NP_001341620.1:p.Pro565His
NM_001354692.1:c.1694C>A (RAF1) NP_001341621.1:p.Pro565His
NM_001354693.1:c.1838C>A (RAF1) NP_001341622.1:p.Pro613His
NM_001354694.1:c.1754C>A (RAF1) NP_001341623.1:p.Pro585His
NM_001354695.1:c.1595C>A (RAF1) NP_001341624.1:p.Pro532His
NR_148940.1:n.2465C>A (RAF1)
NR_148941.1:n.2411C>A (RAF1)
NR_148942.1:n.2350C>A (RAF1)
XM_011533974.3:c.1937C>A (RAF1) XP_011532276.1:p.Pro646His
XM_017006966.1:c.1838C>A (RAF1) XP_016862455.1:p.Pro613His
NM_001354689.3:c.1997C>A (RAF1) NP_001341618.1:p.Pro666His
NM_001354690.2:c.1937C>A (RAF1) NP_001341619.1:p.Pro646His
NM_001354691.2:c.1694C>A (RAF1) NP_001341620.1:p.Pro565His
NM_001354692.2:c.1694C>A (RAF1) NP_001341621.1:p.Pro565His
NM_001354693.2:c.1838C>A (RAF1) NP_001341622.1:p.Pro613His
NM_001354694.2:c.1754C>A (RAF1) NP_001341623.1:p.Pro585His
NM_001354695.2:c.1595C>A (RAF1) NP_001341624.1:p.Pro532His
NR_148940.2:n.2381C>A (RAF1)
NR_148941.2:n.2327C>A (RAF1)
NR_148942.2:n.2266C>A (RAF1)
NM_001354690.3:c.1937C>A (RAF1) NP_001341619.1:p.Pro646His
NM_001354691.3:c.1694C>A (RAF1) NP_001341620.1:p.Pro565His
NM_001354692.3:c.1694C>A (RAF1) NP_001341621.1:p.Pro565His
NM_001354693.3:c.1838C>A (RAF1) NP_001341622.1:p.Pro613His
NM_001354694.3:c.1754C>A (RAF1) NP_001341623.1:p.Pro585His
NM_001354695.3:c.1595C>A (RAF1) NP_001341624.1:p.Pro532His
NM_002880.4:c.1937C>A (RAF1) MANE Select NP_002871.1:p.Pro646His
NR_148940.3:n.2381C>A (RAF1)
NR_148941.3:n.2327C>A (RAF1)
NR_148942.3:n.2266C>A (RAF1)