Canonical Allele Identifier: CA351499187
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585768T>G , CM000665.2:g.12585768T>G GRCh38
NC_000003.11:g.12627267T>G , CM000665.1:g.12627267T>G GRCh37
NC_000003.10:g.12602267T>G NCBI36
NG_007467.1:g.83412A>C , LRG_413:g.83412A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1114A>C (RAF1) ENSP00000401088.1:n.*1114A>C
ENST00000432427.3:c.766A>C (RAF1)
ENST00000460610.2:n.5194A>C (RAF1)
ENST00000471449.2:n.259A>C (RAF1)
ENST00000475353.2:n.3162A>C (RAF1)
ENST00000684903.1:c.*1126A>C (RAF1) ENSP00000508612.1:n.*1126A>C
ENST00000685348.1:c.*1095-362A>C (RAF1) ENSP00000510285.1:n.*1095-362A>C
ENST00000685437.1:c.1350A>C (RAF1) ENSP00000508794.1:p.Lys450Asn
ENST00000685653.1:c.1449A>C (RAF1) ENSP00000509968.1:p.Lys483Asn
ENST00000685697.1:n.2184A>C (RAF1)
ENST00000685738.1:c.*413A>C (RAF1) ENSP00000510156.1:n.*413A>C
ENST00000686409.1:n.4291A>C (RAF1)
ENST00000686455.1:n.3603A>C (RAF1)
ENST00000686762.1:c.*8A>C (RAF1) ENSP00000509767.1:n.*8A>C
ENST00000687257.1:n.3476A>C (RAF1)
ENST00000687326.1:c.*2174A>C (RAF1) ENSP00000509665.1:n.*2174A>C
ENST00000687505.1:n.1567A>C (RAF1)
ENST00000687923.1:c.1338A>C (RAF1) ENSP00000510255.1:p.Lys446Asn
ENST00000688269.1:n.2045A>C (RAF1)
ENST00000688444.1:n.3566A>C (RAF1)
ENST00000688543.1:c.1350A>C (RAF1) ENSP00000509612.1:p.Lys450Asn
ENST00000688625.1:c.*2818A>C (RAF1) ENSP00000509522.1:n.*2818A>C
ENST00000688803.1:n.2964+507A>C (RAF1)
ENST00000688914.1:n.435A>C (RAF1)
ENST00000689097.1:c.*1126A>C (RAF1) ENSP00000509756.1:n.*1126A>C
ENST00000689389.1:c.1272A>C (RAF1) ENSP00000510213.1:p.Lys424Asn
ENST00000689418.1:c.*2917A>C (RAF1) ENSP00000509467.1:n.*2917A>C
ENST00000689540.1:n.3390A>C (RAF1)
ENST00000689876.1:c.1418-362A>C (RAF1) ENSP00000508535.1:n.1418-362A>C
ENST00000689914.1:c.*383A>C (RAF1) ENSP00000509847.1:n.*383A>C
ENST00000690397.1:c.1338A>C (RAF1) ENSP00000508730.1:p.Lys446Asn
ENST00000690460.1:c.1437A>C (RAF1) ENSP00000509106.1:p.Lys479Asn
ENST00000690585.1:c.263-515A>C (RAF1)
ENST00000690625.1:n.2485A>C (RAF1)
ENST00000691396.1:c.*1321A>C (RAF1) ENSP00000510712.1:n.*1321A>C
ENST00000691643.1:n.2075A>C (RAF1)
ENST00000691724.1:c.*406A>C (RAF1) ENSP00000509255.1:n.*406A>C
ENST00000691779.1:c.*1027A>C (RAF1) ENSP00000508592.1:n.*1027A>C
ENST00000691888.1:c.323A>C (RAF1)
ENST00000691899.1:c.1449A>C (RAF1) ENSP00000508763.1:p.Lys483Asn
ENST00000692069.1:n.3806A>C (RAF1)
ENST00000692093.1:c.1350A>C (RAF1) ENSP00000509669.1:p.Lys450Asn
ENST00000692311.1:n.2273A>C (RAF1)
ENST00000692558.1:n.3605A>C (RAF1)
ENST00000692773.1:c.*1186A>C (RAF1) ENSP00000509055.1:n.*1186A>C
ENST00000692830.1:c.*1194A>C (RAF1) ENSP00000509461.1:n.*1194A>C
ENST00000693312.1:c.1224A>C (RAF1) ENSP00000508686.1:p.Lys408Asn
ENST00000693664.1:c.1487+507A>C (RAF1) ENSP00000509614.1:n.1487+507A>C
ENST00000693705.1:c.*1048-787A>C (RAF1) ENSP00000510697.1:n.*1048-787A>C
ENST00000251849.9:c.1449A>C (RAF1) MANE Select ENSP00000251849.4:p.Lys483Asn
ENST00000442415.7:c.1509A>C (RAF1) ENSP00000401888.2:p.Lys503Asn
ENST00000676541.1:c.*3515T>G (MKRN2) ENSP00000503730.1:n.*3515T>G
ENST00000677142.1:c.*3515T>G (MKRN2) ENSP00000504455.1:n.*3515T>G
ENST00000677816.1:c.*2070T>G (MKRN2) ENSP00000502893.1:n.*2070T>G
ENST00000677941.1:n.3578T>G (MKRN2)
ENST00000251849.8:c.1449A>C (RAF1) ENSP00000251849.4:p.Lys483Asn
ENST00000423275.5:c.*1126A>C (RAF1) ENSP00000401088.1:n.*1126A>C
ENST00000432427.2:c.1086A>C (RAF1) ENSP00000398591.2:p.Lys362Asn
ENST00000442415.6:c.1509A>C (RAF1) ENSP00000401888.2:p.Lys503Asn
ENST00000471449.1:n.138A>C (RAF1)
NM_002880.3:c.1449A>C , LRG_413t1:c.1449A>C (RAF1) NP_002871.1:p.Lys483Asn
XM_005265355.1:c.1449A>C (RAF1) XP_005265412.1:p.Lys483Asn
XM_005265357.1:c.1350A>C (RAF1) XP_005265414.1:p.Lys450Asn
XM_005265358.3:c.1206A>C (RAF1) XP_005265415.1:p.Lys402Asn
XM_005265359.3:c.1107A>C (RAF1) XP_005265416.1:p.Lys369Asn
XM_005265360.1:c.1418-362A>C (RAF1) XP_005265417.1:n.1418-362A>C
XM_011533974.1:c.1449A>C (RAF1) XP_011532276.1:p.Lys483Asn
XM_011533975.1:c.1206A>C (RAF1) XP_011532277.1:p.Lys402Asn
NM_001354689.1:c.1509A>C (RAF1) NP_001341618.1:p.Lys503Asn
NM_001354690.1:c.1449A>C (RAF1) NP_001341619.1:p.Lys483Asn
NM_001354691.1:c.1206A>C (RAF1) NP_001341620.1:p.Lys402Asn
NM_001354692.1:c.1206A>C (RAF1) NP_001341621.1:p.Lys402Asn
NM_001354693.1:c.1350A>C (RAF1) NP_001341622.1:p.Lys450Asn
NM_001354694.1:c.1266A>C (RAF1) NP_001341623.1:p.Lys422Asn
NM_001354695.1:c.1107A>C (RAF1) NP_001341624.1:p.Lys369Asn
NR_148940.1:n.1977A>C (RAF1)
NR_148941.1:n.1923A>C (RAF1)
NR_148942.1:n.1862A>C (RAF1)
XM_011533974.3:c.1449A>C (RAF1) XP_011532276.1:p.Lys483Asn
XM_017006966.1:c.1350A>C (RAF1) XP_016862455.1:p.Lys450Asn
NM_001354689.3:c.1509A>C (RAF1) NP_001341618.1:p.Lys503Asn
NM_001354690.2:c.1449A>C (RAF1) NP_001341619.1:p.Lys483Asn
NM_001354691.2:c.1206A>C (RAF1) NP_001341620.1:p.Lys402Asn
NM_001354692.2:c.1206A>C (RAF1) NP_001341621.1:p.Lys402Asn
NM_001354693.2:c.1350A>C (RAF1) NP_001341622.1:p.Lys450Asn
NM_001354694.2:c.1266A>C (RAF1) NP_001341623.1:p.Lys422Asn
NM_001354695.2:c.1107A>C (RAF1) NP_001341624.1:p.Lys369Asn
NR_148940.2:n.1893A>C (RAF1)
NR_148941.2:n.1839A>C (RAF1)
NR_148942.2:n.1778A>C (RAF1)
NM_001354690.3:c.1449A>C (RAF1) NP_001341619.1:p.Lys483Asn
NM_001354691.3:c.1206A>C (RAF1) NP_001341620.1:p.Lys402Asn
NM_001354692.3:c.1206A>C (RAF1) NP_001341621.1:p.Lys402Asn
NM_001354693.3:c.1350A>C (RAF1) NP_001341622.1:p.Lys450Asn
NM_001354694.3:c.1266A>C (RAF1) NP_001341623.1:p.Lys422Asn
NM_001354695.3:c.1107A>C (RAF1) NP_001341624.1:p.Lys369Asn
NM_002880.4:c.1449A>C (RAF1) MANE Select NP_002871.1:p.Lys483Asn
NR_148940.3:n.1893A>C (RAF1)
NR_148941.3:n.1839A>C (RAF1)
NR_148942.3:n.1778A>C (RAF1)