Canonical Allele Identifier: CA134753

Gene: RAF1

Linked Data

• ClinVar Variation Id: 40606
• ClinVar RCV Id: RCV000037706 ; RCV000159077 ; RCV000277865 ; RCV000590070 ; RCV001813268
• dbSNP Id: rs397516828
• COSMIC: COSM308576 ; COSM3944801
• MyVariant Identifiers: chr3:g.12645687G>C (hg19) ; chr3:g.12604188G>C (hg38)
• PubMed: PMID:22824796 ; PMID:23891399 ; PMID:25862627 ; PMID:26266034

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12604188G>C , CM000665.2:g.12604188G>C	GRCh38
NC_000003.11:g.12645687G>C , CM000665.1:g.12645687G>C	GRCh37
NC_000003.10:g.12620687G>C	NCBI36
NG_007467.1:g.64992C>G , LRG_413:g.64992C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000416093.2:c.*459C>G	ENSP00000391265.2:n.*459C>G
ENST00000423275.6:c.*459C>G	ENSP00000401088.1:n.*459C>G
ENST00000432427.3:c.102C>G
ENST00000465826.6:n.373C>G
ENST00000491290.2:n.1159C>G
ENST00000684903.1:c.*459C>G	ENSP00000508612.1:n.*459C>G
ENST00000685348.1:c.*459C>G	ENSP00000510285.1:n.*459C>G
ENST00000685437.1:c.683C>G	ENSP00000508794.1:p.Pro228Arg
ENST00000685653.1:c.782C>G	ENSP00000509968.1:p.Pro261Arg
ENST00000685738.1:c.782C>G	ENSP00000510156.1:p.Pro261Arg
ENST00000685959.1:c.782C>G	ENSP00000510452.1:p.Pro261Arg
ENST00000686409.1:n.1382C>G
ENST00000686455.1:n.1145C>G
ENST00000686479.1:n.1153C>G
ENST00000686762.1:c.782C>G	ENSP00000509767.1:p.Pro261Arg
ENST00000687257.1:n.1018C>G
ENST00000687326.1:c.782C>G	ENSP00000509665.1:p.Pro261Arg
ENST00000687486.1:c.102C>G
ENST00000687505.1:n.900C>G
ENST00000687923.1:c.683C>G	ENSP00000510255.1:p.Pro228Arg
ENST00000687940.1:n.1159C>G
ENST00000688269.1:n.1390C>G
ENST00000688326.1:c.102C>G
ENST00000688444.1:n.1108C>G
ENST00000688543.1:c.683C>G	ENSP00000509612.1:p.Pro228Arg
ENST00000688625.1:c.*360C>G	ENSP00000509522.1:n.*360C>G
ENST00000688803.1:n.1013C>G
ENST00000689033.1:c.782C>G	ENSP00000508983.1:p.Pro261Arg
ENST00000689097.1:c.*459C>G	ENSP00000509756.1:n.*459C>G
ENST00000689389.1:c.782C>G	ENSP00000510213.1:p.Pro261Arg
ENST00000689418.1:c.*459C>G	ENSP00000509467.1:n.*459C>G
ENST00000689481.1:c.*459C>G	ENSP00000510248.1:n.*459C>G
ENST00000689540.1:n.932C>G
ENST00000689876.1:c.782C>G	ENSP00000508535.1:p.Pro261Arg
ENST00000689914.1:c.782C>G	ENSP00000509847.1:p.Pro261Arg
ENST00000690397.1:c.683C>G	ENSP00000508730.1:p.Pro228Arg
ENST00000690460.1:c.782C>G	ENSP00000509106.1:p.Pro261Arg
ENST00000690625.1:n.1085C>G
ENST00000691268.1:c.262-3773C>G
ENST00000691396.1:c.*575C>G	ENSP00000510712.1:n.*575C>G
ENST00000691724.1:c.782C>G	ENSP00000509255.1:p.Pro261Arg
ENST00000691779.1:c.*360C>G	ENSP00000508592.1:n.*360C>G
ENST00000691899.1:c.782C>G	ENSP00000508763.1:p.Pro261Arg
ENST00000692093.1:c.683C>G	ENSP00000509669.1:p.Pro228Arg
ENST00000692311.1:n.1155C>G
ENST00000692558.1:n.1147C>G
ENST00000692773.1:c.*459C>G	ENSP00000509055.1:n.*459C>G
ENST00000692830.1:c.*527C>G	ENSP00000509461.1:n.*527C>G
ENST00000693069.1:c.683C>G	ENSP00000510072.1:p.Pro228Arg
ENST00000693312.1:c.557C>G	ENSP00000508686.1:p.Pro186Arg
ENST00000693664.1:c.782C>G	ENSP00000509614.1:p.Pro261Arg
ENST00000693705.1:c.*459C>G	ENSP00000510697.1:n.*459C>G
ENST00000251849.9:c.782C>G MANE Select	ENSP00000251849.4:p.Pro261Arg
ENST00000442415.7:c.782C>G	ENSP00000401888.2:p.Pro261Arg
ENST00000251849.8:c.782C>G	ENSP00000251849.4:p.Pro261Arg
ENST00000416093.1:c.*360C>G	ENSP00000391265.1:n.*360C>G
ENST00000423275.5:c.*459C>G	ENSP00000401088.1:n.*459C>G
ENST00000432427.2:c.419C>G	ENSP00000398591.2:p.Pro140Arg
ENST00000442415.6:c.782C>G	ENSP00000401888.2:p.Pro261Arg
ENST00000465826.5:n.26C>G
ENST00000491290.1:n.303C>G
NM_002880.3:c.782C>G , LRG_413t1:c.782C>G	NP_002871.1:p.Pro261Arg
XM_005265355.1:c.782C>G	XP_005265412.1:p.Pro261Arg
XM_005265357.1:c.683C>G	XP_005265414.1:p.Pro228Arg
XM_005265358.3:c.539C>G	XP_005265415.1:p.Pro180Arg
XM_005265359.3:c.440C>G	XP_005265416.1:p.Pro147Arg
XM_005265360.1:c.782C>G	XP_005265417.1:p.Pro261Arg
XM_011533974.1:c.782C>G	XP_011532276.1:p.Pro261Arg
XM_011533975.1:c.539C>G	XP_011532277.1:p.Pro180Arg
NM_001354689.1:c.782C>G	NP_001341618.1:p.Pro261Arg
NM_001354690.1:c.782C>G	NP_001341619.1:p.Pro261Arg
NM_001354691.1:c.539C>G	NP_001341620.1:p.Pro180Arg
NM_001354692.1:c.539C>G	NP_001341621.1:p.Pro180Arg
NM_001354693.1:c.683C>G	NP_001341622.1:p.Pro228Arg
NM_001354694.1:c.539C>G	NP_001341623.1:p.Pro180Arg
NM_001354695.1:c.440C>G	NP_001341624.1:p.Pro147Arg
NR_148940.1:n.1197C>G
NR_148941.1:n.1197C>G
NR_148942.1:n.1197C>G
XM_011533974.3:c.782C>G	XP_011532276.1:p.Pro261Arg
XM_017006966.1:c.683C>G	XP_016862455.1:p.Pro228Arg
XR_001740227.1:n.1014C>G
NM_001354689.3:c.782C>G	NP_001341618.1:p.Pro261Arg
NM_001354690.2:c.782C>G	NP_001341619.1:p.Pro261Arg
NM_001354691.2:c.539C>G	NP_001341620.1:p.Pro180Arg
NM_001354692.2:c.539C>G	NP_001341621.1:p.Pro180Arg
NM_001354693.2:c.683C>G	NP_001341622.1:p.Pro228Arg
NM_001354694.2:c.539C>G	NP_001341623.1:p.Pro180Arg
NM_001354695.2:c.440C>G	NP_001341624.1:p.Pro147Arg
NR_148940.2:n.1113C>G
NR_148941.2:n.1113C>G
NR_148942.2:n.1113C>G
NM_001354690.3:c.782C>G	NP_001341619.1:p.Pro261Arg
NM_001354691.3:c.539C>G	NP_001341620.1:p.Pro180Arg
NM_001354692.3:c.539C>G	NP_001341621.1:p.Pro180Arg
NM_001354693.3:c.683C>G	NP_001341622.1:p.Pro228Arg
NM_001354694.3:c.539C>G	NP_001341623.1:p.Pro180Arg
NM_001354695.3:c.440C>G	NP_001341624.1:p.Pro147Arg
NM_002880.4:c.782C>G MANE Select	NP_002871.1:p.Pro261Arg
NR_148940.3:n.1113C>G
NR_148941.3:n.1113C>G
NR_148942.3:n.1113C>G