Canonical Allele Identifier: CA351507413

Gene: RAF1

Linked Data

• ClinVar Variation Id: 981541
• ClinVar RCV Id: RCV001261035
• COSMIC: COSM3392017 ; COSM3392018
• MyVariant Identifiers: chr3:g.12641219A>G (hg19) ; chr3:g.12599720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12599720A>G , CM000665.2:g.12599720A>G	GRCh38
NC_000003.11:g.12641219A>G , CM000665.1:g.12641219A>G	GRCh37
NC_000003.10:g.12616219A>G	NCBI36
NG_007467.1:g.69460T>C , LRG_413:g.69460T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*744T>C	ENSP00000401088.1:n.*744T>C
ENST00000432427.3:c.399T>C
ENST00000465826.6:n.670T>C
ENST00000491290.2:n.1456T>C
ENST00000684903.1:c.*756T>C	ENSP00000508612.1:n.*756T>C
ENST00000685348.1:c.*756T>C	ENSP00000510285.1:n.*756T>C
ENST00000685437.1:c.980T>C	ENSP00000508794.1:p.Phe327Ser
ENST00000685653.1:c.1079T>C	ENSP00000509968.1:p.Phe360Ser
ENST00000685738.1:c.1079T>C	ENSP00000510156.1:p.Phe360Ser
ENST00000686409.1:n.2130T>C
ENST00000686455.1:n.1442T>C
ENST00000686479.1:n.1450T>C
ENST00000686762.1:c.1079T>C	ENSP00000509767.1:p.Phe360Ser
ENST00000687257.1:n.1315T>C
ENST00000687326.1:c.1079T>C	ENSP00000509665.1:p.Phe360Ser
ENST00000687486.1:c.271T>C
ENST00000687505.1:n.1197T>C
ENST00000687923.1:c.980T>C	ENSP00000510255.1:p.Phe327Ser
ENST00000687940.1:n.1456T>C
ENST00000688269.1:n.1675T>C
ENST00000688326.1:c.399T>C
ENST00000688444.1:n.1405T>C
ENST00000688543.1:c.980T>C	ENSP00000509612.1:p.Phe327Ser
ENST00000688625.1:c.*657T>C	ENSP00000509522.1:n.*657T>C
ENST00000688803.1:n.1310T>C
ENST00000688914.1:n.65T>C
ENST00000689097.1:c.*756T>C	ENSP00000509756.1:n.*756T>C
ENST00000689389.1:c.1079T>C	ENSP00000510213.1:p.Phe360Ser
ENST00000689418.1:c.*756T>C	ENSP00000509467.1:n.*756T>C
ENST00000689481.1:c.*756T>C	ENSP00000510248.1:n.*756T>C
ENST00000689540.1:n.1229T>C
ENST00000689876.1:c.1079T>C	ENSP00000508535.1:p.Phe360Ser
ENST00000689914.1:c.1079T>C	ENSP00000509847.1:p.Phe360Ser
ENST00000690397.1:c.968T>C	ENSP00000508730.1:p.Phe323Ser
ENST00000690460.1:c.1067T>C	ENSP00000509106.1:p.Phe356Ser
ENST00000690625.1:n.1382T>C
ENST00000691268.1:c.506T>C
ENST00000691396.1:c.*872T>C	ENSP00000510712.1:n.*872T>C
ENST00000691724.1:c.*36T>C	ENSP00000509255.1:n.*36T>C
ENST00000691779.1:c.*657T>C	ENSP00000508592.1:n.*657T>C
ENST00000691899.1:c.1079T>C	ENSP00000508763.1:p.Phe360Ser
ENST00000692069.1:n.1645T>C
ENST00000692093.1:c.980T>C	ENSP00000509669.1:p.Phe327Ser
ENST00000692311.1:n.1903T>C
ENST00000692558.1:n.1444T>C
ENST00000692773.1:c.*816T>C	ENSP00000509055.1:n.*816T>C
ENST00000692830.1:c.*824T>C	ENSP00000509461.1:n.*824T>C
ENST00000693069.1:c.980T>C	ENSP00000510072.1:p.Phe327Ser
ENST00000693312.1:c.854T>C	ENSP00000508686.1:p.Phe285Ser
ENST00000693664.1:c.1079T>C	ENSP00000509614.1:p.Phe360Ser
ENST00000693705.1:c.*756T>C	ENSP00000510697.1:n.*756T>C
ENST00000251849.9:c.1079T>C MANE Select	ENSP00000251849.4:p.Phe360Ser
ENST00000442415.7:c.1139T>C	ENSP00000401888.2:p.Phe380Ser
ENST00000251849.8:c.1079T>C	ENSP00000251849.4:p.Phe360Ser
ENST00000423275.5:c.*756T>C	ENSP00000401088.1:n.*756T>C
ENST00000432427.2:c.716T>C	ENSP00000398591.2:p.Phe239Ser
ENST00000442415.6:c.1139T>C	ENSP00000401888.2:p.Phe380Ser
ENST00000460610.1:n.36T>C
ENST00000465826.5:n.323T>C
NM_002880.3:c.1079T>C , LRG_413t1:c.1079T>C	NP_002871.1:p.Phe360Ser
XM_005265355.1:c.1079T>C	XP_005265412.1:p.Phe360Ser
XM_005265357.1:c.980T>C	XP_005265414.1:p.Phe327Ser
XM_005265358.3:c.836T>C	XP_005265415.1:p.Phe279Ser
XM_005265359.3:c.737T>C	XP_005265416.1:p.Phe246Ser
XM_005265360.1:c.1079T>C	XP_005265417.1:p.Phe360Ser
XM_011533974.1:c.1079T>C	XP_011532276.1:p.Phe360Ser
XM_011533975.1:c.836T>C	XP_011532277.1:p.Phe279Ser
NM_001354689.1:c.1139T>C	NP_001341618.1:p.Phe380Ser
NM_001354690.1:c.1079T>C	NP_001341619.1:p.Phe360Ser
NM_001354691.1:c.836T>C	NP_001341620.1:p.Phe279Ser
NM_001354692.1:c.836T>C	NP_001341621.1:p.Phe279Ser
NM_001354693.1:c.980T>C	NP_001341622.1:p.Phe327Ser
NM_001354694.1:c.896T>C	NP_001341623.1:p.Phe299Ser
NM_001354695.1:c.737T>C	NP_001341624.1:p.Phe246Ser
NR_148940.1:n.1494T>C
NR_148941.1:n.1494T>C
NR_148942.1:n.1492T>C
XM_011533974.3:c.1079T>C	XP_011532276.1:p.Phe360Ser
XM_017006966.1:c.980T>C	XP_016862455.1:p.Phe327Ser
XR_001740227.1:n.1311T>C
NM_001354689.3:c.1139T>C	NP_001341618.1:p.Phe380Ser
NM_001354690.2:c.1079T>C	NP_001341619.1:p.Phe360Ser
NM_001354691.2:c.836T>C	NP_001341620.1:p.Phe279Ser
NM_001354692.2:c.836T>C	NP_001341621.1:p.Phe279Ser
NM_001354693.2:c.980T>C	NP_001341622.1:p.Phe327Ser
NM_001354694.2:c.896T>C	NP_001341623.1:p.Phe299Ser
NM_001354695.2:c.737T>C	NP_001341624.1:p.Phe246Ser
NR_148940.2:n.1410T>C
NR_148941.2:n.1410T>C
NR_148942.2:n.1408T>C
NM_001354690.3:c.1079T>C	NP_001341619.1:p.Phe360Ser
NM_001354691.3:c.836T>C	NP_001341620.1:p.Phe279Ser
NM_001354692.3:c.836T>C	NP_001341621.1:p.Phe279Ser
NM_001354693.3:c.980T>C	NP_001341622.1:p.Phe327Ser
NM_001354694.3:c.896T>C	NP_001341623.1:p.Phe299Ser
NM_001354695.3:c.737T>C	NP_001341624.1:p.Phe246Ser
NM_002880.4:c.1079T>C MANE Select	NP_002871.1:p.Phe360Ser
NR_148940.3:n.1410T>C
NR_148941.3:n.1410T>C
NR_148942.3:n.1408T>C