Canonical Allele Identifier: CA351499132
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585754C>T , CM000665.2:g.12585754C>T GRCh38
NC_000003.11:g.12627253C>T , CM000665.1:g.12627253C>T GRCh37
NC_000003.10:g.12602253C>T NCBI36
NG_007467.1:g.83426G>A , LRG_413:g.83426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1128G>A (RAF1) ENSP00000401088.1:n.*1128G>A
ENST00000432427.3:c.780G>A (RAF1)
ENST00000460610.2:n.5208G>A (RAF1)
ENST00000471449.2:n.273G>A (RAF1)
ENST00000475353.2:n.3176G>A (RAF1)
ENST00000684903.1:c.*1140G>A (RAF1) ENSP00000508612.1:n.*1140G>A
ENST00000685348.1:c.*1095-348G>A (RAF1) ENSP00000510285.1:n.*1095-348G>A
ENST00000685437.1:c.1364G>A (RAF1) ENSP00000508794.1:p.Gly455Asp
ENST00000685653.1:c.1463G>A (RAF1) ENSP00000509968.1:p.Gly488Asp
ENST00000685697.1:n.2198G>A (RAF1)
ENST00000685738.1:c.*427G>A (RAF1) ENSP00000510156.1:n.*427G>A
ENST00000686409.1:n.4305G>A (RAF1)
ENST00000686455.1:n.3617G>A (RAF1)
ENST00000686762.1:c.*22G>A (RAF1) ENSP00000509767.1:n.*22G>A
ENST00000687257.1:n.3490G>A (RAF1)
ENST00000687326.1:c.*2188G>A (RAF1) ENSP00000509665.1:n.*2188G>A
ENST00000687505.1:n.1581G>A (RAF1)
ENST00000687923.1:c.1352G>A (RAF1) ENSP00000510255.1:p.Gly451Asp
ENST00000688269.1:n.2059G>A (RAF1)
ENST00000688444.1:n.3580G>A (RAF1)
ENST00000688543.1:c.1364G>A (RAF1) ENSP00000509612.1:p.Gly455Asp
ENST00000688625.1:c.*2832G>A (RAF1) ENSP00000509522.1:n.*2832G>A
ENST00000688803.1:n.2965-501G>A (RAF1)
ENST00000688914.1:n.449G>A (RAF1)
ENST00000689097.1:c.*1140G>A (RAF1) ENSP00000509756.1:n.*1140G>A
ENST00000689389.1:c.1286G>A (RAF1) ENSP00000510213.1:p.Gly429Asp
ENST00000689418.1:c.*2931G>A (RAF1) ENSP00000509467.1:n.*2931G>A
ENST00000689540.1:n.3404G>A (RAF1)
ENST00000689876.1:c.1418-348G>A (RAF1) ENSP00000508535.1:n.1418-348G>A
ENST00000689914.1:c.*397G>A (RAF1) ENSP00000509847.1:n.*397G>A
ENST00000690397.1:c.1352G>A (RAF1) ENSP00000508730.1:p.Gly451Asp
ENST00000690460.1:c.1451G>A (RAF1) ENSP00000509106.1:p.Gly484Asp
ENST00000690585.1:c.263-501G>A (RAF1)
ENST00000690625.1:n.2499G>A (RAF1)
ENST00000691396.1:c.*1335G>A (RAF1) ENSP00000510712.1:n.*1335G>A
ENST00000691643.1:n.2089G>A (RAF1)
ENST00000691724.1:c.*420G>A (RAF1) ENSP00000509255.1:n.*420G>A
ENST00000691779.1:c.*1041G>A (RAF1) ENSP00000508592.1:n.*1041G>A
ENST00000691888.1:c.337G>A (RAF1)
ENST00000691899.1:c.1463G>A (RAF1) ENSP00000508763.1:p.Gly488Asp
ENST00000692069.1:n.3820G>A (RAF1)
ENST00000692093.1:c.1364G>A (RAF1) ENSP00000509669.1:p.Gly455Asp
ENST00000692311.1:n.2287G>A (RAF1)
ENST00000692558.1:n.3619G>A (RAF1)
ENST00000692773.1:c.*1200G>A (RAF1) ENSP00000509055.1:n.*1200G>A
ENST00000692830.1:c.*1208G>A (RAF1) ENSP00000509461.1:n.*1208G>A
ENST00000693312.1:c.1238G>A (RAF1) ENSP00000508686.1:p.Gly413Asp
ENST00000693664.1:c.1488-501G>A (RAF1) ENSP00000509614.1:n.1488-501G>A
ENST00000693705.1:c.*1048-773G>A (RAF1) ENSP00000510697.1:n.*1048-773G>A
ENST00000251849.9:c.1463G>A (RAF1) MANE Select ENSP00000251849.4:p.Gly488Asp
ENST00000442415.7:c.1523G>A (RAF1) ENSP00000401888.2:p.Gly508Asp
ENST00000676541.1:c.*3501C>T (MKRN2) ENSP00000503730.1:n.*3501C>T
ENST00000677142.1:c.*3501C>T (MKRN2) ENSP00000504455.1:n.*3501C>T
ENST00000677816.1:c.*2056C>T (MKRN2) ENSP00000502893.1:n.*2056C>T
ENST00000677941.1:n.3564C>T (MKRN2)
ENST00000251849.8:c.1463G>A (RAF1) ENSP00000251849.4:p.Gly488Asp
ENST00000423275.5:c.*1140G>A (RAF1) ENSP00000401088.1:n.*1140G>A
ENST00000432427.2:c.1100G>A (RAF1) ENSP00000398591.2:p.Gly367Asp
ENST00000442415.6:c.1523G>A (RAF1) ENSP00000401888.2:p.Gly508Asp
ENST00000471449.1:n.152G>A (RAF1)
NM_002880.3:c.1463G>A , LRG_413t1:c.1463G>A (RAF1) NP_002871.1:p.Gly488Asp
XM_005265355.1:c.1463G>A (RAF1) XP_005265412.1:p.Gly488Asp
XM_005265357.1:c.1364G>A (RAF1) XP_005265414.1:p.Gly455Asp
XM_005265358.3:c.1220G>A (RAF1) XP_005265415.1:p.Gly407Asp
XM_005265359.3:c.1121G>A (RAF1) XP_005265416.1:p.Gly374Asp
XM_005265360.1:c.1418-348G>A (RAF1) XP_005265417.1:n.1418-348G>A
XM_011533974.1:c.1463G>A (RAF1) XP_011532276.1:p.Gly488Asp
XM_011533975.1:c.1220G>A (RAF1) XP_011532277.1:p.Gly407Asp
NM_001354689.1:c.1523G>A (RAF1) NP_001341618.1:p.Gly508Asp
NM_001354690.1:c.1463G>A (RAF1) NP_001341619.1:p.Gly488Asp
NM_001354691.1:c.1220G>A (RAF1) NP_001341620.1:p.Gly407Asp
NM_001354692.1:c.1220G>A (RAF1) NP_001341621.1:p.Gly407Asp
NM_001354693.1:c.1364G>A (RAF1) NP_001341622.1:p.Gly455Asp
NM_001354694.1:c.1280G>A (RAF1) NP_001341623.1:p.Gly427Asp
NM_001354695.1:c.1121G>A (RAF1) NP_001341624.1:p.Gly374Asp
NR_148940.1:n.1991G>A (RAF1)
NR_148941.1:n.1937G>A (RAF1)
NR_148942.1:n.1876G>A (RAF1)
XM_011533974.3:c.1463G>A (RAF1) XP_011532276.1:p.Gly488Asp
XM_017006966.1:c.1364G>A (RAF1) XP_016862455.1:p.Gly455Asp
NM_001354689.3:c.1523G>A (RAF1) NP_001341618.1:p.Gly508Asp
NM_001354690.2:c.1463G>A (RAF1) NP_001341619.1:p.Gly488Asp
NM_001354691.2:c.1220G>A (RAF1) NP_001341620.1:p.Gly407Asp
NM_001354692.2:c.1220G>A (RAF1) NP_001341621.1:p.Gly407Asp
NM_001354693.2:c.1364G>A (RAF1) NP_001341622.1:p.Gly455Asp
NM_001354694.2:c.1280G>A (RAF1) NP_001341623.1:p.Gly427Asp
NM_001354695.2:c.1121G>A (RAF1) NP_001341624.1:p.Gly374Asp
NR_148940.2:n.1907G>A (RAF1)
NR_148941.2:n.1853G>A (RAF1)
NR_148942.2:n.1792G>A (RAF1)
NM_001354690.3:c.1463G>A (RAF1) NP_001341619.1:p.Gly488Asp
NM_001354691.3:c.1220G>A (RAF1) NP_001341620.1:p.Gly407Asp
NM_001354692.3:c.1220G>A (RAF1) NP_001341621.1:p.Gly407Asp
NM_001354693.3:c.1364G>A (RAF1) NP_001341622.1:p.Gly455Asp
NM_001354694.3:c.1280G>A (RAF1) NP_001341623.1:p.Gly427Asp
NM_001354695.3:c.1121G>A (RAF1) NP_001341624.1:p.Gly374Asp
NM_002880.4:c.1463G>A (RAF1) MANE Select NP_002871.1:p.Gly488Asp
NR_148940.3:n.1907G>A (RAF1)
NR_148941.3:n.1853G>A (RAF1)
NR_148942.3:n.1792G>A (RAF1)