Canonical Allele Identifier: CA297130

Linked Data

ClinVar Variation Id: 40617
dbSNP Id: rs730881003

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585794A>G , CM000665.2:g.12585794A>G GRCh38
NC_000003.11:g.12627293A>G , CM000665.1:g.12627293A>G GRCh37
NC_000003.10:g.12602293A>G NCBI36
NG_007467.1:g.83386T>C , LRG_413:g.83386T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000423275.6:c.*1088T>C (RAF1) ENSP00000401088.1:n.*1088T>C
ENST00000432427.3:c.740T>C (RAF1)
ENST00000460610.2:n.5168T>C (RAF1)
ENST00000471449.2:n.233T>C (RAF1)
ENST00000475353.2:n.3136T>C (RAF1)
ENST00000684903.1:c.*1100T>C (RAF1) ENSP00000508612.1:n.*1100T>C
ENST00000685348.1:c.*1095-388T>C (RAF1) ENSP00000510285.1:n.*1095-388T>C
ENST00000685437.1:c.1324T>C (RAF1) ENSP00000508794.1:p.Phe442Leu
ENST00000685653.1:c.1423T>C (RAF1) ENSP00000509968.1:p.Phe475Leu
ENST00000685697.1:n.2158T>C (RAF1)
ENST00000685738.1:c.*387T>C (RAF1) ENSP00000510156.1:n.*387T>C
ENST00000686409.1:n.4265T>C (RAF1)
ENST00000686455.1:n.3577T>C (RAF1)
ENST00000686762.1:c.1443T>C (RAF1) ENSP00000509767.1:p.Tyr481=
ENST00000687257.1:n.3450T>C (RAF1)
ENST00000687326.1:c.*2148T>C (RAF1) ENSP00000509665.1:n.*2148T>C
ENST00000687505.1:n.1541T>C (RAF1)
ENST00000687923.1:c.1312T>C (RAF1) ENSP00000510255.1:p.Phe438Leu
ENST00000688269.1:n.2019T>C (RAF1)
ENST00000688444.1:n.3540T>C (RAF1)
ENST00000688543.1:c.1324T>C (RAF1) ENSP00000509612.1:p.Phe442Leu
ENST00000688625.1:c.*2792T>C (RAF1) ENSP00000509522.1:n.*2792T>C
ENST00000688803.1:n.2964+481T>C (RAF1)
ENST00000688914.1:n.409T>C (RAF1)
ENST00000689097.1:c.*1100T>C (RAF1) ENSP00000509756.1:n.*1100T>C
ENST00000689389.1:c.1246T>C (RAF1) ENSP00000510213.1:p.Phe416Leu
ENST00000689418.1:c.*2891T>C (RAF1) ENSP00000509467.1:n.*2891T>C
ENST00000689540.1:n.3364T>C (RAF1)
ENST00000689876.1:c.1418-388T>C (RAF1) ENSP00000508535.1:n.1418-388T>C
ENST00000689914.1:c.*357T>C (RAF1) ENSP00000509847.1:n.*357T>C
ENST00000690397.1:c.1312T>C (RAF1) ENSP00000508730.1:p.Phe438Leu
ENST00000690460.1:c.1411T>C (RAF1) ENSP00000509106.1:p.Phe471Leu
ENST00000690585.1:c.263-541T>C (RAF1)
ENST00000690625.1:n.2459T>C (RAF1)
ENST00000691396.1:c.*1295T>C (RAF1) ENSP00000510712.1:n.*1295T>C
ENST00000691643.1:n.2049T>C (RAF1)
ENST00000691724.1:c.*380T>C (RAF1) ENSP00000509255.1:n.*380T>C
ENST00000691779.1:c.*1001T>C (RAF1) ENSP00000508592.1:n.*1001T>C
ENST00000691888.1:c.310-13T>C (RAF1)
ENST00000691899.1:c.1423T>C (RAF1) ENSP00000508763.1:p.Phe475Leu
ENST00000692069.1:n.3780T>C (RAF1)
ENST00000692093.1:c.1324T>C (RAF1) ENSP00000509669.1:p.Phe442Leu
ENST00000692311.1:n.2247T>C (RAF1)
ENST00000692558.1:n.3579T>C (RAF1)
ENST00000692773.1:c.*1160T>C (RAF1) ENSP00000509055.1:n.*1160T>C
ENST00000692830.1:c.*1168T>C (RAF1) ENSP00000509461.1:n.*1168T>C
ENST00000693312.1:c.1198T>C (RAF1) ENSP00000508686.1:p.Phe400Leu
ENST00000693664.1:c.1487+481T>C (RAF1) ENSP00000509614.1:n.1487+481T>C
ENST00000693705.1:c.*1048-813T>C (RAF1) ENSP00000510697.1:n.*1048-813T>C
ENST00000251849.9:c.1423T>C (RAF1) MANE Select ENSP00000251849.4:p.Phe475Leu
ENST00000442415.7:c.1483T>C (RAF1) ENSP00000401888.2:p.Phe495Leu
ENST00000677816.1:c.*2096A>G (MKRN2) ENSP00000502893.1:n.*2096A>G
ENST00000677941.1:n.3604A>G (MKRN2)
ENST00000251849.8:c.1423T>C (RAF1) ENSP00000251849.4:p.Phe475Leu
ENST00000423275.5:c.*1100T>C (RAF1) ENSP00000401088.1:n.*1100T>C
ENST00000432427.2:c.1060T>C (RAF1) ENSP00000398591.2:p.Phe354Leu
ENST00000442415.6:c.1483T>C (RAF1) ENSP00000401888.2:p.Phe495Leu
ENST00000471449.1:n.112T>C (RAF1)
NM_002880.3:c.1423T>C , LRG_413t1:c.1423T>C (RAF1) NP_002871.1:p.Phe475Leu
XM_005265355.1:c.1423T>C (RAF1) XP_005265412.1:p.Phe475Leu
XM_005265357.1:c.1324T>C (RAF1) XP_005265414.1:p.Phe442Leu
XM_005265358.3:c.1180T>C (RAF1) XP_005265415.1:p.Phe394Leu
XM_005265359.3:c.1081T>C (RAF1) XP_005265416.1:p.Phe361Leu
XM_005265360.1:c.1418-388T>C (RAF1) XP_005265417.1:n.1418-388T>C
XM_011533974.1:c.1423T>C (RAF1) XP_011532276.1:p.Phe475Leu
XM_011533975.1:c.1180T>C (RAF1) XP_011532277.1:p.Phe394Leu
NM_001354689.1:c.1483T>C (RAF1) NP_001341618.1:p.Phe495Leu
NM_001354690.1:c.1423T>C (RAF1) NP_001341619.1:p.Phe475Leu
NM_001354691.1:c.1180T>C (RAF1) NP_001341620.1:p.Phe394Leu
NM_001354692.1:c.1180T>C (RAF1) NP_001341621.1:p.Phe394Leu
NM_001354693.1:c.1324T>C (RAF1) NP_001341622.1:p.Phe442Leu
NM_001354694.1:c.1240T>C (RAF1) NP_001341623.1:p.Phe414Leu
NM_001354695.1:c.1081T>C (RAF1) NP_001341624.1:p.Phe361Leu
NR_148940.1:n.1951T>C (RAF1)
NR_148941.1:n.1897T>C (RAF1)
NR_148942.1:n.1836T>C (RAF1)
XM_011533974.3:c.1423T>C (RAF1) XP_011532276.1:p.Phe475Leu
XM_017006966.1:c.1324T>C (RAF1) XP_016862455.1:p.Phe442Leu
NM_001354689.3:c.1483T>C (RAF1) NP_001341618.1:p.Phe495Leu
NM_001354690.2:c.1423T>C (RAF1) NP_001341619.1:p.Phe475Leu
NM_001354691.2:c.1180T>C (RAF1) NP_001341620.1:p.Phe394Leu
NM_001354692.2:c.1180T>C (RAF1) NP_001341621.1:p.Phe394Leu
NM_001354693.2:c.1324T>C (RAF1) NP_001341622.1:p.Phe442Leu
NM_001354694.2:c.1240T>C (RAF1) NP_001341623.1:p.Phe414Leu
NM_001354695.2:c.1081T>C (RAF1) NP_001341624.1:p.Phe361Leu
NR_148940.2:n.1867T>C (RAF1)
NR_148941.2:n.1813T>C (RAF1)
NR_148942.2:n.1752T>C (RAF1)
NM_001354690.3:c.1423T>C (RAF1) NP_001341619.1:p.Phe475Leu
NM_001354691.3:c.1180T>C (RAF1) NP_001341620.1:p.Phe394Leu
NM_001354692.3:c.1180T>C (RAF1) NP_001341621.1:p.Phe394Leu
NM_001354693.3:c.1324T>C (RAF1) NP_001341622.1:p.Phe442Leu
NM_001354694.3:c.1240T>C (RAF1) NP_001341623.1:p.Phe414Leu
NM_001354695.3:c.1081T>C (RAF1) NP_001341624.1:p.Phe361Leu
NM_002880.4:c.1423T>C (RAF1) MANE Select NP_002871.1:p.Phe475Leu
NR_148940.3:n.1867T>C (RAF1)
NR_148941.3:n.1813T>C (RAF1)
NR_148942.3:n.1752T>C (RAF1)