Canonical Allele Identifier: CA351496122
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584630G>C , CM000665.2:g.12584630G>C GRCh38
NC_000003.11:g.12626129G>C , CM000665.1:g.12626129G>C GRCh37
NC_000003.10:g.12601129G>C NCBI36
NG_007467.1:g.84550C>G , LRG_413:g.84550C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1496C>G (RAF1) ENSP00000401088.1:n.*1496C>G
ENST00000432427.3:c.1148C>G (RAF1)
ENST00000460610.2:n.6143C>G (RAF1)
ENST00000471449.2:n.641C>G (RAF1)
ENST00000475353.2:n.4111C>G (RAF1)
ENST00000684903.1:c.*1508C>G (RAF1) ENSP00000508612.1:n.*1508C>G
ENST00000685348.1:c.*1542C>G (RAF1) ENSP00000510285.1:n.*1542C>G
ENST00000685437.1:c.1732C>G (RAF1) ENSP00000508794.1:p.His578Asp
ENST00000685653.1:c.1831C>G (RAF1) ENSP00000509968.1:p.His611Asp
ENST00000685697.1:n.2566C>G (RAF1)
ENST00000685738.1:c.*795C>G (RAF1) ENSP00000510156.1:n.*795C>G
ENST00000686409.1:n.5240C>G (RAF1)
ENST00000686455.1:n.4552C>G (RAF1)
ENST00000686762.1:c.*390C>G (RAF1) ENSP00000509767.1:n.*390C>G
ENST00000687257.1:n.4285C>G (RAF1)
ENST00000687326.1:c.*3123C>G (RAF1) ENSP00000509665.1:n.*3123C>G
ENST00000687505.1:n.1949C>G (RAF1)
ENST00000687923.1:c.1720C>G (RAF1) ENSP00000510255.1:p.His574Asp
ENST00000688269.1:n.2427C>G (RAF1)
ENST00000688444.1:n.3948C>G (RAF1)
ENST00000688543.1:c.1732C>G (RAF1) ENSP00000509612.1:p.His578Asp
ENST00000688625.1:c.*3200C>G (RAF1) ENSP00000509522.1:n.*3200C>G
ENST00000688803.1:n.3259C>G (RAF1)
ENST00000689097.1:c.*1508C>G (RAF1) ENSP00000509756.1:n.*1508C>G
ENST00000689389.1:c.1654C>G (RAF1) ENSP00000510213.1:p.His552Asp
ENST00000689418.1:c.*3726C>G (RAF1) ENSP00000509467.1:n.*3726C>G
ENST00000689540.1:n.4199C>G (RAF1)
ENST00000689876.1:c.*380C>G (RAF1) ENSP00000508535.1:n.*380C>G
ENST00000689914.1:c.*765C>G (RAF1) ENSP00000509847.1:n.*765C>G
ENST00000690397.1:c.1720C>G (RAF1) ENSP00000508730.1:p.His574Asp
ENST00000690460.1:c.1819C>G (RAF1) ENSP00000509106.1:p.His607Asp
ENST00000690585.1:c.557C>G (RAF1)
ENST00000690625.1:n.2867C>G (RAF1)
ENST00000691396.1:c.*1703C>G (RAF1) ENSP00000510712.1:n.*1703C>G
ENST00000691643.1:n.2884C>G (RAF1)
ENST00000691724.1:c.*788C>G (RAF1) ENSP00000509255.1:n.*788C>G
ENST00000691779.1:c.*1409C>G (RAF1) ENSP00000508592.1:n.*1409C>G
ENST00000691888.1:c.705C>G (RAF1)
ENST00000691899.1:c.1831C>G (RAF1) ENSP00000508763.1:p.His611Asp
ENST00000692069.1:n.4755C>G (RAF1)
ENST00000692093.1:c.1732C>G (RAF1) ENSP00000509669.1:p.His578Asp
ENST00000692311.1:n.2655C>G (RAF1)
ENST00000692558.1:n.4414C>G (RAF1)
ENST00000692773.1:c.*1568C>G (RAF1) ENSP00000509055.1:n.*1568C>G
ENST00000692830.1:c.*1576C>G (RAF1) ENSP00000509461.1:n.*1576C>G
ENST00000693312.1:c.1606C>G (RAF1) ENSP00000508686.1:p.His536Asp
ENST00000693664.1:c.*282C>G (RAF1) ENSP00000509614.1:n.*282C>G
ENST00000693705.1:c.*1210C>G (RAF1) ENSP00000510697.1:n.*1210C>G
ENST00000251849.9:c.1831C>G (RAF1) MANE Select ENSP00000251849.4:p.His611Asp
ENST00000442415.7:c.1891C>G (RAF1) ENSP00000401888.2:p.His631Asp
ENST00000676541.1:c.*2377G>C (MKRN2) ENSP00000503730.1:n.*2377G>C
ENST00000677142.1:c.*2377G>C (MKRN2) ENSP00000504455.1:n.*2377G>C
ENST00000677816.1:c.*932G>C (MKRN2) ENSP00000502893.1:n.*932G>C
ENST00000677941.1:n.2440G>C (MKRN2)
ENST00000251849.8:c.1831C>G (RAF1) ENSP00000251849.4:p.His611Asp
ENST00000423275.5:c.*1508C>G (RAF1) ENSP00000401088.1:n.*1508C>G
ENST00000432427.2:c.1468C>G (RAF1) ENSP00000398591.2:p.His490Asp
ENST00000442415.6:c.1891C>G (RAF1) ENSP00000401888.2:p.His631Asp
ENST00000471449.1:n.520C>G (RAF1)
NM_002880.3:c.1831C>G , LRG_413t1:c.1831C>G (RAF1) NP_002871.1:p.His611Asp
XM_005265355.1:c.1831C>G (RAF1) XP_005265412.1:p.His611Asp
XM_005265357.1:c.1732C>G (RAF1) XP_005265414.1:p.His578Asp
XM_005265358.3:c.1588C>G (RAF1) XP_005265415.1:p.His530Asp
XM_005265359.3:c.1489C>G (RAF1) XP_005265416.1:p.His497Asp
XM_011533974.1:c.1831C>G (RAF1) XP_011532276.1:p.His611Asp
XM_011533975.1:c.1588C>G (RAF1) XP_011532277.1:p.His530Asp
NM_001354689.1:c.1891C>G (RAF1) NP_001341618.1:p.His631Asp
NM_001354690.1:c.1831C>G (RAF1) NP_001341619.1:p.His611Asp
NM_001354691.1:c.1588C>G (RAF1) NP_001341620.1:p.His530Asp
NM_001354692.1:c.1588C>G (RAF1) NP_001341621.1:p.His530Asp
NM_001354693.1:c.1732C>G (RAF1) NP_001341622.1:p.His578Asp
NM_001354694.1:c.1648C>G (RAF1) NP_001341623.1:p.His550Asp
NM_001354695.1:c.1489C>G (RAF1) NP_001341624.1:p.His497Asp
NR_148940.1:n.2359C>G (RAF1)
NR_148941.1:n.2305C>G (RAF1)
NR_148942.1:n.2244C>G (RAF1)
XM_011533974.3:c.1831C>G (RAF1) XP_011532276.1:p.His611Asp
XM_017006966.1:c.1732C>G (RAF1) XP_016862455.1:p.His578Asp
NM_001354689.3:c.1891C>G (RAF1) NP_001341618.1:p.His631Asp
NM_001354690.2:c.1831C>G (RAF1) NP_001341619.1:p.His611Asp
NM_001354691.2:c.1588C>G (RAF1) NP_001341620.1:p.His530Asp
NM_001354692.2:c.1588C>G (RAF1) NP_001341621.1:p.His530Asp
NM_001354693.2:c.1732C>G (RAF1) NP_001341622.1:p.His578Asp
NM_001354694.2:c.1648C>G (RAF1) NP_001341623.1:p.His550Asp
NM_001354695.2:c.1489C>G (RAF1) NP_001341624.1:p.His497Asp
NR_148940.2:n.2275C>G (RAF1)
NR_148941.2:n.2221C>G (RAF1)
NR_148942.2:n.2160C>G (RAF1)
NM_001354690.3:c.1831C>G (RAF1) NP_001341619.1:p.His611Asp
NM_001354691.3:c.1588C>G (RAF1) NP_001341620.1:p.His530Asp
NM_001354692.3:c.1588C>G (RAF1) NP_001341621.1:p.His530Asp
NM_001354693.3:c.1732C>G (RAF1) NP_001341622.1:p.His578Asp
NM_001354694.3:c.1648C>G (RAF1) NP_001341623.1:p.His550Asp
NM_001354695.3:c.1489C>G (RAF1) NP_001341624.1:p.His497Asp
NM_002880.4:c.1831C>G (RAF1) MANE Select NP_002871.1:p.His611Asp
NR_148940.3:n.2275C>G (RAF1)
NR_148941.3:n.2221C>G (RAF1)
NR_148942.3:n.2160C>G (RAF1)