Canonical Allele Identifier: CA351499192
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585769T>G , CM000665.2:g.12585769T>G GRCh38
NC_000003.11:g.12627268T>G , CM000665.1:g.12627268T>G GRCh37
NC_000003.10:g.12602268T>G NCBI36
NG_007467.1:g.83411A>C , LRG_413:g.83411A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1113A>C (RAF1) ENSP00000401088.1:n.*1113A>C
ENST00000432427.3:c.765A>C (RAF1)
ENST00000460610.2:n.5193A>C (RAF1)
ENST00000471449.2:n.258A>C (RAF1)
ENST00000475353.2:n.3161A>C (RAF1)
ENST00000684903.1:c.*1125A>C (RAF1) ENSP00000508612.1:n.*1125A>C
ENST00000685348.1:c.*1095-363A>C (RAF1) ENSP00000510285.1:n.*1095-363A>C
ENST00000685437.1:c.1349A>C (RAF1) ENSP00000508794.1:p.Lys450Thr
ENST00000685653.1:c.1448A>C (RAF1) ENSP00000509968.1:p.Lys483Thr
ENST00000685697.1:n.2183A>C (RAF1)
ENST00000685738.1:c.*412A>C (RAF1) ENSP00000510156.1:n.*412A>C
ENST00000686409.1:n.4290A>C (RAF1)
ENST00000686455.1:n.3602A>C (RAF1)
ENST00000686762.1:c.*7A>C (RAF1) ENSP00000509767.1:n.*7A>C
ENST00000687257.1:n.3475A>C (RAF1)
ENST00000687326.1:c.*2173A>C (RAF1) ENSP00000509665.1:n.*2173A>C
ENST00000687505.1:n.1566A>C (RAF1)
ENST00000687923.1:c.1337A>C (RAF1) ENSP00000510255.1:p.Lys446Thr
ENST00000688269.1:n.2044A>C (RAF1)
ENST00000688444.1:n.3565A>C (RAF1)
ENST00000688543.1:c.1349A>C (RAF1) ENSP00000509612.1:p.Lys450Thr
ENST00000688625.1:c.*2817A>C (RAF1) ENSP00000509522.1:n.*2817A>C
ENST00000688803.1:n.2964+506A>C (RAF1)
ENST00000688914.1:n.434A>C (RAF1)
ENST00000689097.1:c.*1125A>C (RAF1) ENSP00000509756.1:n.*1125A>C
ENST00000689389.1:c.1271A>C (RAF1) ENSP00000510213.1:p.Lys424Thr
ENST00000689418.1:c.*2916A>C (RAF1) ENSP00000509467.1:n.*2916A>C
ENST00000689540.1:n.3389A>C (RAF1)
ENST00000689876.1:c.1418-363A>C (RAF1) ENSP00000508535.1:n.1418-363A>C
ENST00000689914.1:c.*382A>C (RAF1) ENSP00000509847.1:n.*382A>C
ENST00000690397.1:c.1337A>C (RAF1) ENSP00000508730.1:p.Lys446Thr
ENST00000690460.1:c.1436A>C (RAF1) ENSP00000509106.1:p.Lys479Thr
ENST00000690585.1:c.263-516A>C (RAF1)
ENST00000690625.1:n.2484A>C (RAF1)
ENST00000691396.1:c.*1320A>C (RAF1) ENSP00000510712.1:n.*1320A>C
ENST00000691643.1:n.2074A>C (RAF1)
ENST00000691724.1:c.*405A>C (RAF1) ENSP00000509255.1:n.*405A>C
ENST00000691779.1:c.*1026A>C (RAF1) ENSP00000508592.1:n.*1026A>C
ENST00000691888.1:c.322A>C (RAF1)
ENST00000691899.1:c.1448A>C (RAF1) ENSP00000508763.1:p.Lys483Thr
ENST00000692069.1:n.3805A>C (RAF1)
ENST00000692093.1:c.1349A>C (RAF1) ENSP00000509669.1:p.Lys450Thr
ENST00000692311.1:n.2272A>C (RAF1)
ENST00000692558.1:n.3604A>C (RAF1)
ENST00000692773.1:c.*1185A>C (RAF1) ENSP00000509055.1:n.*1185A>C
ENST00000692830.1:c.*1193A>C (RAF1) ENSP00000509461.1:n.*1193A>C
ENST00000693312.1:c.1223A>C (RAF1) ENSP00000508686.1:p.Lys408Thr
ENST00000693664.1:c.1487+506A>C (RAF1) ENSP00000509614.1:n.1487+506A>C
ENST00000693705.1:c.*1048-788A>C (RAF1) ENSP00000510697.1:n.*1048-788A>C
ENST00000251849.9:c.1448A>C (RAF1) MANE Select ENSP00000251849.4:p.Lys483Thr
ENST00000442415.7:c.1508A>C (RAF1) ENSP00000401888.2:p.Lys503Thr
ENST00000676541.1:c.*3516T>G (MKRN2) ENSP00000503730.1:n.*3516T>G
ENST00000677142.1:c.*3516T>G (MKRN2) ENSP00000504455.1:n.*3516T>G
ENST00000677816.1:c.*2071T>G (MKRN2) ENSP00000502893.1:n.*2071T>G
ENST00000677941.1:n.3579T>G (MKRN2)
ENST00000251849.8:c.1448A>C (RAF1) ENSP00000251849.4:p.Lys483Thr
ENST00000423275.5:c.*1125A>C (RAF1) ENSP00000401088.1:n.*1125A>C
ENST00000432427.2:c.1085A>C (RAF1) ENSP00000398591.2:p.Lys362Thr
ENST00000442415.6:c.1508A>C (RAF1) ENSP00000401888.2:p.Lys503Thr
ENST00000471449.1:n.137A>C (RAF1)
NM_002880.3:c.1448A>C , LRG_413t1:c.1448A>C (RAF1) NP_002871.1:p.Lys483Thr
XM_005265355.1:c.1448A>C (RAF1) XP_005265412.1:p.Lys483Thr
XM_005265357.1:c.1349A>C (RAF1) XP_005265414.1:p.Lys450Thr
XM_005265358.3:c.1205A>C (RAF1) XP_005265415.1:p.Lys402Thr
XM_005265359.3:c.1106A>C (RAF1) XP_005265416.1:p.Lys369Thr
XM_005265360.1:c.1418-363A>C (RAF1) XP_005265417.1:n.1418-363A>C
XM_011533974.1:c.1448A>C (RAF1) XP_011532276.1:p.Lys483Thr
XM_011533975.1:c.1205A>C (RAF1) XP_011532277.1:p.Lys402Thr
NM_001354689.1:c.1508A>C (RAF1) NP_001341618.1:p.Lys503Thr
NM_001354690.1:c.1448A>C (RAF1) NP_001341619.1:p.Lys483Thr
NM_001354691.1:c.1205A>C (RAF1) NP_001341620.1:p.Lys402Thr
NM_001354692.1:c.1205A>C (RAF1) NP_001341621.1:p.Lys402Thr
NM_001354693.1:c.1349A>C (RAF1) NP_001341622.1:p.Lys450Thr
NM_001354694.1:c.1265A>C (RAF1) NP_001341623.1:p.Lys422Thr
NM_001354695.1:c.1106A>C (RAF1) NP_001341624.1:p.Lys369Thr
NR_148940.1:n.1976A>C (RAF1)
NR_148941.1:n.1922A>C (RAF1)
NR_148942.1:n.1861A>C (RAF1)
XM_011533974.3:c.1448A>C (RAF1) XP_011532276.1:p.Lys483Thr
XM_017006966.1:c.1349A>C (RAF1) XP_016862455.1:p.Lys450Thr
NM_001354689.3:c.1508A>C (RAF1) NP_001341618.1:p.Lys503Thr
NM_001354690.2:c.1448A>C (RAF1) NP_001341619.1:p.Lys483Thr
NM_001354691.2:c.1205A>C (RAF1) NP_001341620.1:p.Lys402Thr
NM_001354692.2:c.1205A>C (RAF1) NP_001341621.1:p.Lys402Thr
NM_001354693.2:c.1349A>C (RAF1) NP_001341622.1:p.Lys450Thr
NM_001354694.2:c.1265A>C (RAF1) NP_001341623.1:p.Lys422Thr
NM_001354695.2:c.1106A>C (RAF1) NP_001341624.1:p.Lys369Thr
NR_148940.2:n.1892A>C (RAF1)
NR_148941.2:n.1838A>C (RAF1)
NR_148942.2:n.1777A>C (RAF1)
NM_001354690.3:c.1448A>C (RAF1) NP_001341619.1:p.Lys483Thr
NM_001354691.3:c.1205A>C (RAF1) NP_001341620.1:p.Lys402Thr
NM_001354692.3:c.1205A>C (RAF1) NP_001341621.1:p.Lys402Thr
NM_001354693.3:c.1349A>C (RAF1) NP_001341622.1:p.Lys450Thr
NM_001354694.3:c.1265A>C (RAF1) NP_001341623.1:p.Lys422Thr
NM_001354695.3:c.1106A>C (RAF1) NP_001341624.1:p.Lys369Thr
NM_002880.4:c.1448A>C (RAF1) MANE Select NP_002871.1:p.Lys483Thr
NR_148940.3:n.1892A>C (RAF1)
NR_148941.3:n.1838A>C (RAF1)
NR_148942.3:n.1777A>C (RAF1)