Canonical Allele Identifier: CA261617

Gene: RAF1

Linked Data

• ClinVar Variation Id: 40601
• ClinVar RCV Id: RCV000037698 ; RCV000159074 ; RCV000522675
• dbSNP Id: rs3730271
• MyVariant Identifiers: chr3:g.12645694A>T (hg19) ; chr3:g.12604195A>T (hg38)
• ERepo: CA261617/MONDO:0021060/004
• PubMed: PMID:19020799 ; PMID:20052757 ; PMID:21784453

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12604195A>T , CM000665.2:g.12604195A>T	GRCh38
NC_000003.11:g.12645694A>T , CM000665.1:g.12645694A>T	GRCh37
NC_000003.10:g.12620694A>T	NCBI36
NG_007467.1:g.64985T>A , LRG_413:g.64985T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000416093.2:c.*452T>A	ENSP00000391265.2:n.*452T>A
ENST00000423275.6:c.*452T>A	ENSP00000401088.1:n.*452T>A
ENST00000432427.3:c.95T>A
ENST00000465826.6:n.366T>A
ENST00000491290.2:n.1152T>A
ENST00000684903.1:c.*452T>A	ENSP00000508612.1:n.*452T>A
ENST00000685348.1:c.*452T>A	ENSP00000510285.1:n.*452T>A
ENST00000685437.1:c.676T>A	ENSP00000508794.1:p.Ser226Thr
ENST00000685653.1:c.775T>A	ENSP00000509968.1:p.Ser259Thr
ENST00000685738.1:c.775T>A	ENSP00000510156.1:p.Ser259Thr
ENST00000685959.1:c.775T>A	ENSP00000510452.1:p.Ser259Thr
ENST00000686409.1:n.1375T>A
ENST00000686455.1:n.1138T>A
ENST00000686479.1:n.1146T>A
ENST00000686762.1:c.775T>A	ENSP00000509767.1:p.Ser259Thr
ENST00000687257.1:n.1011T>A
ENST00000687326.1:c.775T>A	ENSP00000509665.1:p.Ser259Thr
ENST00000687486.1:c.95T>A
ENST00000687505.1:n.893T>A
ENST00000687923.1:c.676T>A	ENSP00000510255.1:p.Ser226Thr
ENST00000687940.1:n.1152T>A
ENST00000688269.1:n.1383T>A
ENST00000688326.1:c.95T>A
ENST00000688444.1:n.1101T>A
ENST00000688543.1:c.676T>A	ENSP00000509612.1:p.Ser226Thr
ENST00000688625.1:c.*353T>A	ENSP00000509522.1:n.*353T>A
ENST00000688803.1:n.1006T>A
ENST00000689033.1:c.775T>A	ENSP00000508983.1:p.Ser259Thr
ENST00000689097.1:c.*452T>A	ENSP00000509756.1:n.*452T>A
ENST00000689389.1:c.775T>A	ENSP00000510213.1:p.Ser259Thr
ENST00000689418.1:c.*452T>A	ENSP00000509467.1:n.*452T>A
ENST00000689481.1:c.*452T>A	ENSP00000510248.1:n.*452T>A
ENST00000689540.1:n.925T>A
ENST00000689876.1:c.775T>A	ENSP00000508535.1:p.Ser259Thr
ENST00000689914.1:c.775T>A	ENSP00000509847.1:p.Ser259Thr
ENST00000690397.1:c.676T>A	ENSP00000508730.1:p.Ser226Thr
ENST00000690460.1:c.775T>A	ENSP00000509106.1:p.Ser259Thr
ENST00000690625.1:n.1078T>A
ENST00000691268.1:c.262-3780T>A
ENST00000691396.1:c.*568T>A	ENSP00000510712.1:n.*568T>A
ENST00000691724.1:c.775T>A	ENSP00000509255.1:p.Ser259Thr
ENST00000691779.1:c.*353T>A	ENSP00000508592.1:n.*353T>A
ENST00000691899.1:c.775T>A	ENSP00000508763.1:p.Ser259Thr
ENST00000692093.1:c.676T>A	ENSP00000509669.1:p.Ser226Thr
ENST00000692311.1:n.1148T>A
ENST00000692558.1:n.1140T>A
ENST00000692773.1:c.*452T>A	ENSP00000509055.1:n.*452T>A
ENST00000692830.1:c.*520T>A	ENSP00000509461.1:n.*520T>A
ENST00000693069.1:c.676T>A	ENSP00000510072.1:p.Ser226Thr
ENST00000693312.1:c.550T>A	ENSP00000508686.1:p.Ser184Thr
ENST00000693664.1:c.775T>A	ENSP00000509614.1:p.Ser259Thr
ENST00000693705.1:c.*452T>A	ENSP00000510697.1:n.*452T>A
ENST00000251849.9:c.775T>A MANE Select	ENSP00000251849.4:p.Ser259Thr
ENST00000442415.7:c.775T>A	ENSP00000401888.2:p.Ser259Thr
ENST00000251849.8:c.775T>A	ENSP00000251849.4:p.Ser259Thr
ENST00000416093.1:c.*353T>A	ENSP00000391265.1:n.*353T>A
ENST00000423275.5:c.*452T>A	ENSP00000401088.1:n.*452T>A
ENST00000432427.2:c.412T>A	ENSP00000398591.2:p.Ser138Thr
ENST00000442415.6:c.775T>A	ENSP00000401888.2:p.Ser259Thr
ENST00000465826.5:n.19T>A
ENST00000491290.1:n.296T>A
NM_002880.3:c.775T>A , LRG_413t1:c.775T>A	NP_002871.1:p.Ser259Thr
XM_005265355.1:c.775T>A	XP_005265412.1:p.Ser259Thr
XM_005265357.1:c.676T>A	XP_005265414.1:p.Ser226Thr
XM_005265358.3:c.532T>A	XP_005265415.1:p.Ser178Thr
XM_005265359.3:c.433T>A	XP_005265416.1:p.Ser145Thr
XM_005265360.1:c.775T>A	XP_005265417.1:p.Ser259Thr
XM_011533974.1:c.775T>A	XP_011532276.1:p.Ser259Thr
XM_011533975.1:c.532T>A	XP_011532277.1:p.Ser178Thr
NM_001354689.1:c.775T>A	NP_001341618.1:p.Ser259Thr
NM_001354690.1:c.775T>A	NP_001341619.1:p.Ser259Thr
NM_001354691.1:c.532T>A	NP_001341620.1:p.Ser178Thr
NM_001354692.1:c.532T>A	NP_001341621.1:p.Ser178Thr
NM_001354693.1:c.676T>A	NP_001341622.1:p.Ser226Thr
NM_001354694.1:c.532T>A	NP_001341623.1:p.Ser178Thr
NM_001354695.1:c.433T>A	NP_001341624.1:p.Ser145Thr
NR_148940.1:n.1190T>A
NR_148941.1:n.1190T>A
NR_148942.1:n.1190T>A
XM_011533974.3:c.775T>A	XP_011532276.1:p.Ser259Thr
XM_017006966.1:c.676T>A	XP_016862455.1:p.Ser226Thr
XR_001740227.1:n.1007T>A
NM_001354689.3:c.775T>A	NP_001341618.1:p.Ser259Thr
NM_001354690.2:c.775T>A	NP_001341619.1:p.Ser259Thr
NM_001354691.2:c.532T>A	NP_001341620.1:p.Ser178Thr
NM_001354692.2:c.532T>A	NP_001341621.1:p.Ser178Thr
NM_001354693.2:c.676T>A	NP_001341622.1:p.Ser226Thr
NM_001354694.2:c.532T>A	NP_001341623.1:p.Ser178Thr
NM_001354695.2:c.433T>A	NP_001341624.1:p.Ser145Thr
NR_148940.2:n.1106T>A
NR_148941.2:n.1106T>A
NR_148942.2:n.1106T>A
NM_001354690.3:c.775T>A	NP_001341619.1:p.Ser259Thr
NM_001354691.3:c.532T>A	NP_001341620.1:p.Ser178Thr
NM_001354692.3:c.532T>A	NP_001341621.1:p.Ser178Thr
NM_001354693.3:c.676T>A	NP_001341622.1:p.Ser226Thr
NM_001354694.3:c.532T>A	NP_001341623.1:p.Ser178Thr
NM_001354695.3:c.433T>A	NP_001341624.1:p.Ser145Thr
NM_002880.4:c.775T>A MANE Select	NP_002871.1:p.Ser259Thr
NR_148940.3:n.1106T>A
NR_148941.3:n.1106T>A
NR_148942.3:n.1106T>A