Canonical Allele Identifier: CA2259661

Gene: RAF1

Linked Data

• ClinVar Variation Id: 503548
• ClinVar RCV Id: RCV002448840
• dbSNP Id: rs752713997
• ExAC: 3:12641904 C / T
• gnomAD v2: 3-12641904-C-T
• gnomAD v3: 3-12600405-C-T
• gnomAD v4: 3-12600405-C-T
• COSMIC: COSM1223036
• MyVariant Identifiers: chr3:g.12641904C>T (hg19) ; chr3:g.12600405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12600405C>T , CM000665.2:g.12600405C>T	GRCh38
NC_000003.11:g.12641904C>T , CM000665.1:g.12641904C>T	GRCh37
NC_000003.10:g.12616904C>T	NCBI36
NG_007467.1:g.68775G>A , LRG_413:g.68775G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*522G>A	ENSP00000401088.1:n.*522G>A
ENST00000432427.3:c.165G>A
ENST00000465826.6:n.436G>A
ENST00000491290.2:n.1222G>A
ENST00000684903.1:c.*522G>A	ENSP00000508612.1:n.*522G>A
ENST00000685348.1:c.*522G>A	ENSP00000510285.1:n.*522G>A
ENST00000685437.1:c.746G>A	ENSP00000508794.1:p.Arg249Gln
ENST00000685438.1:n.609G>A
ENST00000685653.1:c.845G>A	ENSP00000509968.1:p.Arg282Gln
ENST00000685738.1:c.845G>A	ENSP00000510156.1:p.Arg282Gln
ENST00000686409.1:n.1445G>A
ENST00000686455.1:n.1208G>A
ENST00000686479.1:n.1216G>A
ENST00000686762.1:c.845G>A	ENSP00000509767.1:p.Arg282Gln
ENST00000687257.1:n.1081G>A
ENST00000687326.1:c.845G>A	ENSP00000509665.1:p.Arg282Gln
ENST00000687486.1:c.165G>A
ENST00000687505.1:n.963G>A
ENST00000687923.1:c.746G>A	ENSP00000510255.1:p.Arg249Gln
ENST00000687940.1:n.1222G>A
ENST00000688269.1:n.1453G>A
ENST00000688326.1:c.165G>A
ENST00000688444.1:n.1171G>A
ENST00000688543.1:c.746G>A	ENSP00000509612.1:p.Arg249Gln
ENST00000688625.1:c.*423G>A	ENSP00000509522.1:n.*423G>A
ENST00000688803.1:n.1076G>A
ENST00000689097.1:c.*522G>A	ENSP00000509756.1:n.*522G>A
ENST00000689389.1:c.845G>A	ENSP00000510213.1:p.Arg282Gln
ENST00000689418.1:c.*522G>A	ENSP00000509467.1:n.*522G>A
ENST00000689481.1:c.*522G>A	ENSP00000510248.1:n.*522G>A
ENST00000689540.1:n.995G>A
ENST00000689876.1:c.845G>A	ENSP00000508535.1:p.Arg282Gln
ENST00000689914.1:c.845G>A	ENSP00000509847.1:p.Arg282Gln
ENST00000690397.1:c.746G>A	ENSP00000508730.1:p.Arg249Gln
ENST00000690460.1:c.845G>A	ENSP00000509106.1:p.Arg282Gln
ENST00000690625.1:n.1148G>A
ENST00000691268.1:c.272G>A
ENST00000691396.1:c.*638G>A	ENSP00000510712.1:n.*638G>A
ENST00000691724.1:c.845G>A	ENSP00000509255.1:p.Arg282Gln
ENST00000691779.1:c.*423G>A	ENSP00000508592.1:n.*423G>A
ENST00000691899.1:c.845G>A	ENSP00000508763.1:p.Arg282Gln
ENST00000692069.1:n.960G>A
ENST00000692093.1:c.746G>A	ENSP00000509669.1:p.Arg249Gln
ENST00000692311.1:n.1218G>A
ENST00000692558.1:n.1210G>A
ENST00000692773.1:c.*582G>A	ENSP00000509055.1:n.*582G>A
ENST00000692830.1:c.*590G>A	ENSP00000509461.1:n.*590G>A
ENST00000693069.1:c.746G>A	ENSP00000510072.1:p.Arg249Gln
ENST00000693312.1:c.620G>A	ENSP00000508686.1:p.Arg207Gln
ENST00000693664.1:c.845G>A	ENSP00000509614.1:p.Arg282Gln
ENST00000693705.1:c.*522G>A	ENSP00000510697.1:n.*522G>A
ENST00000251849.9:c.845G>A MANE Select	ENSP00000251849.4:p.Arg282Gln
ENST00000442415.7:c.905G>A	ENSP00000401888.2:p.Arg302Gln
ENST00000251849.8:c.845G>A	ENSP00000251849.4:p.Arg282Gln
ENST00000423275.5:c.*522G>A	ENSP00000401088.1:n.*522G>A
ENST00000432427.2:c.482G>A	ENSP00000398591.2:p.Arg161Gln
ENST00000442415.6:c.905G>A	ENSP00000401888.2:p.Arg302Gln
ENST00000465826.5:n.89G>A
ENST00000491290.1:n.366G>A
NM_002880.3:c.845G>A , LRG_413t1:c.845G>A	NP_002871.1:p.Arg282Gln
XM_005265355.1:c.845G>A	XP_005265412.1:p.Arg282Gln
XM_005265357.1:c.746G>A	XP_005265414.1:p.Arg249Gln
XM_005265358.3:c.602G>A	XP_005265415.1:p.Arg201Gln
XM_005265359.3:c.503G>A	XP_005265416.1:p.Arg168Gln
XM_005265360.1:c.845G>A	XP_005265417.1:p.Arg282Gln
XM_011533974.1:c.845G>A	XP_011532276.1:p.Arg282Gln
XM_011533975.1:c.602G>A	XP_011532277.1:p.Arg201Gln
NM_001354689.1:c.905G>A	NP_001341618.1:p.Arg302Gln
NM_001354690.1:c.845G>A	NP_001341619.1:p.Arg282Gln
NM_001354691.1:c.602G>A	NP_001341620.1:p.Arg201Gln
NM_001354692.1:c.602G>A	NP_001341621.1:p.Arg201Gln
NM_001354693.1:c.746G>A	NP_001341622.1:p.Arg249Gln
NM_001354694.1:c.662G>A	NP_001341623.1:p.Arg221Gln
NM_001354695.1:c.503G>A	NP_001341624.1:p.Arg168Gln
NR_148940.1:n.1260G>A
NR_148941.1:n.1260G>A
NR_148942.1:n.1260G>A
XM_011533974.3:c.845G>A	XP_011532276.1:p.Arg282Gln
XM_017006966.1:c.746G>A	XP_016862455.1:p.Arg249Gln
XR_001740227.1:n.1077G>A
NM_001354689.3:c.905G>A	NP_001341618.1:p.Arg302Gln
NM_001354690.2:c.845G>A	NP_001341619.1:p.Arg282Gln
NM_001354691.2:c.602G>A	NP_001341620.1:p.Arg201Gln
NM_001354692.2:c.602G>A	NP_001341621.1:p.Arg201Gln
NM_001354693.2:c.746G>A	NP_001341622.1:p.Arg249Gln
NM_001354694.2:c.662G>A	NP_001341623.1:p.Arg221Gln
NM_001354695.2:c.503G>A	NP_001341624.1:p.Arg168Gln
NR_148940.2:n.1176G>A
NR_148941.2:n.1176G>A
NR_148942.2:n.1176G>A
NM_001354690.3:c.845G>A	NP_001341619.1:p.Arg282Gln
NM_001354691.3:c.602G>A	NP_001341620.1:p.Arg201Gln
NM_001354692.3:c.602G>A	NP_001341621.1:p.Arg201Gln
NM_001354693.3:c.746G>A	NP_001341622.1:p.Arg249Gln
NM_001354694.3:c.662G>A	NP_001341623.1:p.Arg221Gln
NM_001354695.3:c.503G>A	NP_001341624.1:p.Arg168Gln
NM_002880.4:c.845G>A MANE Select	NP_002871.1:p.Arg282Gln
NR_148940.3:n.1176G>A
NR_148941.3:n.1176G>A
NR_148942.3:n.1176G>A