Canonical Allele Identifier: CA351495420
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584530C>G , CM000665.2:g.12584530C>G GRCh38
NC_000003.11:g.12626029C>G , CM000665.1:g.12626029C>G GRCh37
NC_000003.10:g.12601029C>G NCBI36
NG_007467.1:g.84650G>C , LRG_413:g.84650G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1596G>C (RAF1) ENSP00000401088.1:n.*1596G>C
ENST00000432427.3:c.1248G>C (RAF1)
ENST00000460610.2:n.6243G>C (RAF1)
ENST00000471449.2:n.741G>C (RAF1)
ENST00000475353.2:n.4211G>C (RAF1)
ENST00000684903.1:c.*1608G>C (RAF1) ENSP00000508612.1:n.*1608G>C
ENST00000685348.1:c.*1642G>C (RAF1) ENSP00000510285.1:n.*1642G>C
ENST00000685437.1:c.1832G>C (RAF1) ENSP00000508794.1:p.Arg611Thr
ENST00000685653.1:c.1931G>C (RAF1) ENSP00000509968.1:p.Arg644Thr
ENST00000685697.1:n.2666G>C (RAF1)
ENST00000685738.1:c.*895G>C (RAF1) ENSP00000510156.1:n.*895G>C
ENST00000686409.1:n.5340G>C (RAF1)
ENST00000686455.1:n.4652G>C (RAF1)
ENST00000686762.1:c.*490G>C (RAF1) ENSP00000509767.1:n.*490G>C
ENST00000687257.1:n.4385G>C (RAF1)
ENST00000687326.1:c.*3223G>C (RAF1) ENSP00000509665.1:n.*3223G>C
ENST00000687505.1:n.2049G>C (RAF1)
ENST00000687923.1:c.1820G>C (RAF1) ENSP00000510255.1:p.Arg607Thr
ENST00000688269.1:n.2527G>C (RAF1)
ENST00000688444.1:n.4048G>C (RAF1)
ENST00000688543.1:c.1832G>C (RAF1) ENSP00000509612.1:p.Arg611Thr
ENST00000688625.1:c.*3300G>C (RAF1) ENSP00000509522.1:n.*3300G>C
ENST00000688803.1:n.3359G>C (RAF1)
ENST00000689097.1:c.*1608G>C (RAF1) ENSP00000509756.1:n.*1608G>C
ENST00000689389.1:c.1754G>C (RAF1) ENSP00000510213.1:p.Arg585Thr
ENST00000689418.1:c.*3826G>C (RAF1) ENSP00000509467.1:n.*3826G>C
ENST00000689540.1:n.4299G>C (RAF1)
ENST00000689876.1:c.*480G>C (RAF1) ENSP00000508535.1:n.*480G>C
ENST00000689914.1:c.*865G>C (RAF1) ENSP00000509847.1:n.*865G>C
ENST00000690397.1:c.1820G>C (RAF1) ENSP00000508730.1:p.Arg607Thr
ENST00000690460.1:c.1919G>C (RAF1) ENSP00000509106.1:p.Arg640Thr
ENST00000690585.1:c.657G>C (RAF1)
ENST00000690625.1:n.2967G>C (RAF1)
ENST00000691396.1:c.*1803G>C (RAF1) ENSP00000510712.1:n.*1803G>C
ENST00000691643.1:n.2984G>C (RAF1)
ENST00000691724.1:c.*888G>C (RAF1) ENSP00000509255.1:n.*888G>C
ENST00000691779.1:c.*1509G>C (RAF1) ENSP00000508592.1:n.*1509G>C
ENST00000691888.1:c.805G>C (RAF1)
ENST00000691899.1:c.1931G>C (RAF1) ENSP00000508763.1:p.Arg644Thr
ENST00000692069.1:n.4855G>C (RAF1)
ENST00000692093.1:c.1832G>C (RAF1) ENSP00000509669.1:p.Arg611Thr
ENST00000692311.1:n.2755G>C (RAF1)
ENST00000692558.1:n.4514G>C (RAF1)
ENST00000692773.1:c.*1668G>C (RAF1) ENSP00000509055.1:n.*1668G>C
ENST00000692830.1:c.*1676G>C (RAF1) ENSP00000509461.1:n.*1676G>C
ENST00000693312.1:c.1706G>C (RAF1) ENSP00000508686.1:p.Arg569Thr
ENST00000693664.1:c.*382G>C (RAF1) ENSP00000509614.1:n.*382G>C
ENST00000693705.1:c.*1310G>C (RAF1) ENSP00000510697.1:n.*1310G>C
ENST00000251849.9:c.1931G>C (RAF1) MANE Select ENSP00000251849.4:p.Arg644Thr
ENST00000442415.7:c.1991G>C (RAF1) ENSP00000401888.2:p.Arg664Thr
ENST00000676541.1:c.*2277C>G (MKRN2) ENSP00000503730.1:n.*2277C>G
ENST00000677142.1:c.*2277C>G (MKRN2) ENSP00000504455.1:n.*2277C>G
ENST00000677816.1:c.*832C>G (MKRN2) ENSP00000502893.1:n.*832C>G
ENST00000677941.1:n.2340C>G (MKRN2)
ENST00000251849.8:c.1931G>C (RAF1) ENSP00000251849.4:p.Arg644Thr
ENST00000423275.5:c.*1608G>C (RAF1) ENSP00000401088.1:n.*1608G>C
ENST00000432427.2:c.1568G>C (RAF1) ENSP00000398591.2:p.Arg523Thr
ENST00000442415.6:c.1991G>C (RAF1) ENSP00000401888.2:p.Arg664Thr
ENST00000471449.1:n.620G>C (RAF1)
NM_002880.3:c.1931G>C , LRG_413t1:c.1931G>C (RAF1) NP_002871.1:p.Arg644Thr
XM_005265355.1:c.1931G>C (RAF1) XP_005265412.1:p.Arg644Thr
XM_005265357.1:c.1832G>C (RAF1) XP_005265414.1:p.Arg611Thr
XM_005265358.3:c.1688G>C (RAF1) XP_005265415.1:p.Arg563Thr
XM_005265359.3:c.1589G>C (RAF1) XP_005265416.1:p.Arg530Thr
XM_011533974.1:c.1931G>C (RAF1) XP_011532276.1:p.Arg644Thr
XM_011533975.1:c.1688G>C (RAF1) XP_011532277.1:p.Arg563Thr
NM_001354689.1:c.1991G>C (RAF1) NP_001341618.1:p.Arg664Thr
NM_001354690.1:c.1931G>C (RAF1) NP_001341619.1:p.Arg644Thr
NM_001354691.1:c.1688G>C (RAF1) NP_001341620.1:p.Arg563Thr
NM_001354692.1:c.1688G>C (RAF1) NP_001341621.1:p.Arg563Thr
NM_001354693.1:c.1832G>C (RAF1) NP_001341622.1:p.Arg611Thr
NM_001354694.1:c.1748G>C (RAF1) NP_001341623.1:p.Arg583Thr
NM_001354695.1:c.1589G>C (RAF1) NP_001341624.1:p.Arg530Thr
NR_148940.1:n.2459G>C (RAF1)
NR_148941.1:n.2405G>C (RAF1)
NR_148942.1:n.2344G>C (RAF1)
XM_011533974.3:c.1931G>C (RAF1) XP_011532276.1:p.Arg644Thr
XM_017006966.1:c.1832G>C (RAF1) XP_016862455.1:p.Arg611Thr
NM_001354689.3:c.1991G>C (RAF1) NP_001341618.1:p.Arg664Thr
NM_001354690.2:c.1931G>C (RAF1) NP_001341619.1:p.Arg644Thr
NM_001354691.2:c.1688G>C (RAF1) NP_001341620.1:p.Arg563Thr
NM_001354692.2:c.1688G>C (RAF1) NP_001341621.1:p.Arg563Thr
NM_001354693.2:c.1832G>C (RAF1) NP_001341622.1:p.Arg611Thr
NM_001354694.2:c.1748G>C (RAF1) NP_001341623.1:p.Arg583Thr
NM_001354695.2:c.1589G>C (RAF1) NP_001341624.1:p.Arg530Thr
NR_148940.2:n.2375G>C (RAF1)
NR_148941.2:n.2321G>C (RAF1)
NR_148942.2:n.2260G>C (RAF1)
NM_001354690.3:c.1931G>C (RAF1) NP_001341619.1:p.Arg644Thr
NM_001354691.3:c.1688G>C (RAF1) NP_001341620.1:p.Arg563Thr
NM_001354692.3:c.1688G>C (RAF1) NP_001341621.1:p.Arg563Thr
NM_001354693.3:c.1832G>C (RAF1) NP_001341622.1:p.Arg611Thr
NM_001354694.3:c.1748G>C (RAF1) NP_001341623.1:p.Arg583Thr
NM_001354695.3:c.1589G>C (RAF1) NP_001341624.1:p.Arg530Thr
NM_002880.4:c.1931G>C (RAF1) MANE Select NP_002871.1:p.Arg644Thr
NR_148940.3:n.2375G>C (RAF1)
NR_148941.3:n.2321G>C (RAF1)
NR_148942.3:n.2260G>C (RAF1)