Canonical Allele Identifier: CA351495447
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584534G>T , CM000665.2:g.12584534G>T GRCh38
NC_000003.11:g.12626033G>T , CM000665.1:g.12626033G>T GRCh37
NC_000003.10:g.12601033G>T NCBI36
NG_007467.1:g.84646C>A , LRG_413:g.84646C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1592C>A (RAF1) ENSP00000401088.1:n.*1592C>A
ENST00000432427.3:c.1244C>A (RAF1)
ENST00000460610.2:n.6239C>A (RAF1)
ENST00000471449.2:n.737C>A (RAF1)
ENST00000475353.2:n.4207C>A (RAF1)
ENST00000684903.1:c.*1604C>A (RAF1) ENSP00000508612.1:n.*1604C>A
ENST00000685348.1:c.*1638C>A (RAF1) ENSP00000510285.1:n.*1638C>A
ENST00000685437.1:c.1828C>A (RAF1) ENSP00000508794.1:p.Pro610Thr
ENST00000685653.1:c.1927C>A (RAF1) ENSP00000509968.1:p.Pro643Thr
ENST00000685697.1:n.2662C>A (RAF1)
ENST00000685738.1:c.*891C>A (RAF1) ENSP00000510156.1:n.*891C>A
ENST00000686409.1:n.5336C>A (RAF1)
ENST00000686455.1:n.4648C>A (RAF1)
ENST00000686762.1:c.*486C>A (RAF1) ENSP00000509767.1:n.*486C>A
ENST00000687257.1:n.4381C>A (RAF1)
ENST00000687326.1:c.*3219C>A (RAF1) ENSP00000509665.1:n.*3219C>A
ENST00000687505.1:n.2045C>A (RAF1)
ENST00000687923.1:c.1816C>A (RAF1) ENSP00000510255.1:p.Pro606Thr
ENST00000688269.1:n.2523C>A (RAF1)
ENST00000688444.1:n.4044C>A (RAF1)
ENST00000688543.1:c.1828C>A (RAF1) ENSP00000509612.1:p.Pro610Thr
ENST00000688625.1:c.*3296C>A (RAF1) ENSP00000509522.1:n.*3296C>A
ENST00000688803.1:n.3355C>A (RAF1)
ENST00000689097.1:c.*1604C>A (RAF1) ENSP00000509756.1:n.*1604C>A
ENST00000689389.1:c.1750C>A (RAF1) ENSP00000510213.1:p.Pro584Thr
ENST00000689418.1:c.*3822C>A (RAF1) ENSP00000509467.1:n.*3822C>A
ENST00000689540.1:n.4295C>A (RAF1)
ENST00000689876.1:c.*476C>A (RAF1) ENSP00000508535.1:n.*476C>A
ENST00000689914.1:c.*861C>A (RAF1) ENSP00000509847.1:n.*861C>A
ENST00000690397.1:c.1816C>A (RAF1) ENSP00000508730.1:p.Pro606Thr
ENST00000690460.1:c.1915C>A (RAF1) ENSP00000509106.1:p.Pro639Thr
ENST00000690585.1:c.653C>A (RAF1)
ENST00000690625.1:n.2963C>A (RAF1)
ENST00000691396.1:c.*1799C>A (RAF1) ENSP00000510712.1:n.*1799C>A
ENST00000691643.1:n.2980C>A (RAF1)
ENST00000691724.1:c.*884C>A (RAF1) ENSP00000509255.1:n.*884C>A
ENST00000691779.1:c.*1505C>A (RAF1) ENSP00000508592.1:n.*1505C>A
ENST00000691888.1:c.801C>A (RAF1)
ENST00000691899.1:c.1927C>A (RAF1) ENSP00000508763.1:p.Pro643Thr
ENST00000692069.1:n.4851C>A (RAF1)
ENST00000692093.1:c.1828C>A (RAF1) ENSP00000509669.1:p.Pro610Thr
ENST00000692311.1:n.2751C>A (RAF1)
ENST00000692558.1:n.4510C>A (RAF1)
ENST00000692773.1:c.*1664C>A (RAF1) ENSP00000509055.1:n.*1664C>A
ENST00000692830.1:c.*1672C>A (RAF1) ENSP00000509461.1:n.*1672C>A
ENST00000693312.1:c.1702C>A (RAF1) ENSP00000508686.1:p.Pro568Thr
ENST00000693664.1:c.*378C>A (RAF1) ENSP00000509614.1:n.*378C>A
ENST00000693705.1:c.*1306C>A (RAF1) ENSP00000510697.1:n.*1306C>A
ENST00000251849.9:c.1927C>A (RAF1) MANE Select ENSP00000251849.4:p.Pro643Thr
ENST00000442415.7:c.1987C>A (RAF1) ENSP00000401888.2:p.Pro663Thr
ENST00000676541.1:c.*2281G>T (MKRN2) ENSP00000503730.1:n.*2281G>T
ENST00000677142.1:c.*2281G>T (MKRN2) ENSP00000504455.1:n.*2281G>T
ENST00000677816.1:c.*836G>T (MKRN2) ENSP00000502893.1:n.*836G>T
ENST00000677941.1:n.2344G>T (MKRN2)
ENST00000251849.8:c.1927C>A (RAF1) ENSP00000251849.4:p.Pro643Thr
ENST00000423275.5:c.*1604C>A (RAF1) ENSP00000401088.1:n.*1604C>A
ENST00000432427.2:c.1564C>A (RAF1) ENSP00000398591.2:p.Pro522Thr
ENST00000442415.6:c.1987C>A (RAF1) ENSP00000401888.2:p.Pro663Thr
ENST00000471449.1:n.616C>A (RAF1)
NM_002880.3:c.1927C>A , LRG_413t1:c.1927C>A (RAF1) NP_002871.1:p.Pro643Thr
XM_005265355.1:c.1927C>A (RAF1) XP_005265412.1:p.Pro643Thr
XM_005265357.1:c.1828C>A (RAF1) XP_005265414.1:p.Pro610Thr
XM_005265358.3:c.1684C>A (RAF1) XP_005265415.1:p.Pro562Thr
XM_005265359.3:c.1585C>A (RAF1) XP_005265416.1:p.Pro529Thr
XM_011533974.1:c.1927C>A (RAF1) XP_011532276.1:p.Pro643Thr
XM_011533975.1:c.1684C>A (RAF1) XP_011532277.1:p.Pro562Thr
NM_001354689.1:c.1987C>A (RAF1) NP_001341618.1:p.Pro663Thr
NM_001354690.1:c.1927C>A (RAF1) NP_001341619.1:p.Pro643Thr
NM_001354691.1:c.1684C>A (RAF1) NP_001341620.1:p.Pro562Thr
NM_001354692.1:c.1684C>A (RAF1) NP_001341621.1:p.Pro562Thr
NM_001354693.1:c.1828C>A (RAF1) NP_001341622.1:p.Pro610Thr
NM_001354694.1:c.1744C>A (RAF1) NP_001341623.1:p.Pro582Thr
NM_001354695.1:c.1585C>A (RAF1) NP_001341624.1:p.Pro529Thr
NR_148940.1:n.2455C>A (RAF1)
NR_148941.1:n.2401C>A (RAF1)
NR_148942.1:n.2340C>A (RAF1)
XM_011533974.3:c.1927C>A (RAF1) XP_011532276.1:p.Pro643Thr
XM_017006966.1:c.1828C>A (RAF1) XP_016862455.1:p.Pro610Thr
NM_001354689.3:c.1987C>A (RAF1) NP_001341618.1:p.Pro663Thr
NM_001354690.2:c.1927C>A (RAF1) NP_001341619.1:p.Pro643Thr
NM_001354691.2:c.1684C>A (RAF1) NP_001341620.1:p.Pro562Thr
NM_001354692.2:c.1684C>A (RAF1) NP_001341621.1:p.Pro562Thr
NM_001354693.2:c.1828C>A (RAF1) NP_001341622.1:p.Pro610Thr
NM_001354694.2:c.1744C>A (RAF1) NP_001341623.1:p.Pro582Thr
NM_001354695.2:c.1585C>A (RAF1) NP_001341624.1:p.Pro529Thr
NR_148940.2:n.2371C>A (RAF1)
NR_148941.2:n.2317C>A (RAF1)
NR_148942.2:n.2256C>A (RAF1)
NM_001354690.3:c.1927C>A (RAF1) NP_001341619.1:p.Pro643Thr
NM_001354691.3:c.1684C>A (RAF1) NP_001341620.1:p.Pro562Thr
NM_001354692.3:c.1684C>A (RAF1) NP_001341621.1:p.Pro562Thr
NM_001354693.3:c.1828C>A (RAF1) NP_001341622.1:p.Pro610Thr
NM_001354694.3:c.1744C>A (RAF1) NP_001341623.1:p.Pro582Thr
NM_001354695.3:c.1585C>A (RAF1) NP_001341624.1:p.Pro529Thr
NM_002880.4:c.1927C>A (RAF1) MANE Select NP_002871.1:p.Pro643Thr
NR_148940.3:n.2371C>A (RAF1)
NR_148941.3:n.2317C>A (RAF1)
NR_148942.3:n.2256C>A (RAF1)