Canonical Allele Identifier: CA184304

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 179378
• ClinVar RCV Id: RCV000156167 ; RCV000819687 ; RCV000680316
• dbSNP Id: rs727504827
• ExAC: 3:12626461 C / T
• gnomAD v2: 3-12626461-C-T
• gnomAD v3: 3-12584962-C-T
• gnomAD v4: 3-12584962-C-T
• MyVariant Identifiers: chr3:g.12626461C>T (hg19) ; chr3:g.12584962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584962C>T , CM000665.2:g.12584962C>T	GRCh38
NC_000003.11:g.12626461C>T , CM000665.1:g.12626461C>T	GRCh37
NC_000003.10:g.12601461C>T	NCBI36
NG_007467.1:g.84218G>A , LRG_413:g.84218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1353G>A (RAF1)	ENSP00000401088.1:n.*1353G>A
ENST00000432427.3:c.1005G>A (RAF1)
ENST00000460610.2:n.6000G>A (RAF1)
ENST00000471449.2:n.498G>A (RAF1)
ENST00000475353.2:n.3968G>A (RAF1)
ENST00000684903.1:c.*1365G>A (RAF1)	ENSP00000508612.1:n.*1365G>A
ENST00000685348.1:c.*1399G>A (RAF1)	ENSP00000510285.1:n.*1399G>A
ENST00000685437.1:c.1589G>A (RAF1)	ENSP00000508794.1:p.Arg530Gln
ENST00000685653.1:c.1688G>A (RAF1)	ENSP00000509968.1:p.Arg563Gln
ENST00000685697.1:n.2423G>A (RAF1)
ENST00000685738.1:c.*652G>A (RAF1)	ENSP00000510156.1:n.*652G>A
ENST00000686409.1:n.5097G>A (RAF1)
ENST00000686455.1:n.4409G>A (RAF1)
ENST00000686762.1:c.*247G>A (RAF1)	ENSP00000509767.1:n.*247G>A
ENST00000687257.1:n.4142G>A (RAF1)
ENST00000687326.1:c.*2980G>A (RAF1)	ENSP00000509665.1:n.*2980G>A
ENST00000687505.1:n.1806G>A (RAF1)
ENST00000687923.1:c.1577G>A (RAF1)	ENSP00000510255.1:p.Arg526Gln
ENST00000688269.1:n.2284G>A (RAF1)
ENST00000688444.1:n.3805G>A (RAF1)
ENST00000688543.1:c.1589G>A (RAF1)	ENSP00000509612.1:p.Arg530Gln
ENST00000688625.1:c.*3057G>A (RAF1)	ENSP00000509522.1:n.*3057G>A
ENST00000688803.1:n.3116G>A (RAF1)
ENST00000688914.1:n.1101G>A (RAF1)
ENST00000689097.1:c.*1365G>A (RAF1)	ENSP00000509756.1:n.*1365G>A
ENST00000689389.1:c.1511G>A (RAF1)	ENSP00000510213.1:p.Arg504Gln
ENST00000689418.1:c.*3583G>A (RAF1)	ENSP00000509467.1:n.*3583G>A
ENST00000689540.1:n.4056G>A (RAF1)
ENST00000689876.1:c.*237G>A (RAF1)	ENSP00000508535.1:n.*237G>A
ENST00000689914.1:c.*622G>A (RAF1)	ENSP00000509847.1:n.*622G>A
ENST00000690397.1:c.1577G>A (RAF1)	ENSP00000508730.1:p.Arg526Gln
ENST00000690460.1:c.1676G>A (RAF1)	ENSP00000509106.1:p.Arg559Gln
ENST00000690585.1:c.414G>A (RAF1)
ENST00000690625.1:n.2724G>A (RAF1)
ENST00000691396.1:c.*1560G>A (RAF1)	ENSP00000510712.1:n.*1560G>A
ENST00000691643.1:n.2741G>A (RAF1)
ENST00000691724.1:c.*645G>A (RAF1)	ENSP00000509255.1:n.*645G>A
ENST00000691779.1:c.*1266G>A (RAF1)	ENSP00000508592.1:n.*1266G>A
ENST00000691888.1:c.562G>A (RAF1)
ENST00000691899.1:c.1688G>A (RAF1)	ENSP00000508763.1:p.Arg563Gln
ENST00000692069.1:n.4612G>A (RAF1)
ENST00000692093.1:c.1589G>A (RAF1)	ENSP00000509669.1:p.Arg530Gln
ENST00000692311.1:n.2512G>A (RAF1)
ENST00000692558.1:n.4271G>A (RAF1)
ENST00000692773.1:c.*1425G>A (RAF1)	ENSP00000509055.1:n.*1425G>A
ENST00000692830.1:c.*1433G>A (RAF1)	ENSP00000509461.1:n.*1433G>A
ENST00000693312.1:c.1463G>A (RAF1)	ENSP00000508686.1:p.Arg488Gln
ENST00000693664.1:c.*139G>A (RAF1)	ENSP00000509614.1:n.*139G>A
ENST00000693705.1:c.*1067G>A (RAF1)	ENSP00000510697.1:n.*1067G>A
ENST00000251849.9:c.1688G>A (RAF1) MANE Select	ENSP00000251849.4:p.Arg563Gln
ENST00000442415.7:c.1748G>A (RAF1)	ENSP00000401888.2:p.Arg583Gln
ENST00000676541.1:c.*2709C>T (MKRN2)	ENSP00000503730.1:n.*2709C>T
ENST00000677142.1:c.*2709C>T (MKRN2)	ENSP00000504455.1:n.*2709C>T
ENST00000677816.1:c.*1264C>T (MKRN2)	ENSP00000502893.1:n.*1264C>T
ENST00000677941.1:n.2772C>T (MKRN2)
ENST00000251849.8:c.1688G>A (RAF1)	ENSP00000251849.4:p.Arg563Gln
ENST00000423275.5:c.*1365G>A (RAF1)	ENSP00000401088.1:n.*1365G>A
ENST00000432427.2:c.1325G>A (RAF1)	ENSP00000398591.2:p.Arg442Gln
ENST00000442415.6:c.1748G>A (RAF1)	ENSP00000401888.2:p.Arg583Gln
ENST00000471449.1:n.377G>A (RAF1)
NM_002880.3:c.1688G>A , LRG_413t1:c.1688G>A (RAF1)	NP_002871.1:p.Arg563Gln
XM_005265355.1:c.1688G>A (RAF1)	XP_005265412.1:p.Arg563Gln
XM_005265357.1:c.1589G>A (RAF1)	XP_005265414.1:p.Arg530Gln
XM_005265358.3:c.1445G>A (RAF1)	XP_005265415.1:p.Arg482Gln
XM_005265359.3:c.1346G>A (RAF1)	XP_005265416.1:p.Arg449Gln
XM_011533974.1:c.1688G>A (RAF1)	XP_011532276.1:p.Arg563Gln
XM_011533975.1:c.1445G>A (RAF1)	XP_011532277.1:p.Arg482Gln
NM_001354689.1:c.1748G>A (RAF1)	NP_001341618.1:p.Arg583Gln
NM_001354690.1:c.1688G>A (RAF1)	NP_001341619.1:p.Arg563Gln
NM_001354691.1:c.1445G>A (RAF1)	NP_001341620.1:p.Arg482Gln
NM_001354692.1:c.1445G>A (RAF1)	NP_001341621.1:p.Arg482Gln
NM_001354693.1:c.1589G>A (RAF1)	NP_001341622.1:p.Arg530Gln
NM_001354694.1:c.1505G>A (RAF1)	NP_001341623.1:p.Arg502Gln
NM_001354695.1:c.1346G>A (RAF1)	NP_001341624.1:p.Arg449Gln
NR_148940.1:n.2216G>A (RAF1)
NR_148941.1:n.2162G>A (RAF1)
NR_148942.1:n.2101G>A (RAF1)
XM_011533974.3:c.1688G>A (RAF1)	XP_011532276.1:p.Arg563Gln
XM_017006966.1:c.1589G>A (RAF1)	XP_016862455.1:p.Arg530Gln
NM_001354689.3:c.1748G>A (RAF1)	NP_001341618.1:p.Arg583Gln
NM_001354690.2:c.1688G>A (RAF1)	NP_001341619.1:p.Arg563Gln
NM_001354691.2:c.1445G>A (RAF1)	NP_001341620.1:p.Arg482Gln
NM_001354692.2:c.1445G>A (RAF1)	NP_001341621.1:p.Arg482Gln
NM_001354693.2:c.1589G>A (RAF1)	NP_001341622.1:p.Arg530Gln
NM_001354694.2:c.1505G>A (RAF1)	NP_001341623.1:p.Arg502Gln
NM_001354695.2:c.1346G>A (RAF1)	NP_001341624.1:p.Arg449Gln
NR_148940.2:n.2132G>A (RAF1)
NR_148941.2:n.2078G>A (RAF1)
NR_148942.2:n.2017G>A (RAF1)
NM_001354690.3:c.1688G>A (RAF1)	NP_001341619.1:p.Arg563Gln
NM_001354691.3:c.1445G>A (RAF1)	NP_001341620.1:p.Arg482Gln
NM_001354692.3:c.1445G>A (RAF1)	NP_001341621.1:p.Arg482Gln
NM_001354693.3:c.1589G>A (RAF1)	NP_001341622.1:p.Arg530Gln
NM_001354694.3:c.1505G>A (RAF1)	NP_001341623.1:p.Arg502Gln
NM_001354695.3:c.1346G>A (RAF1)	NP_001341624.1:p.Arg449Gln
NM_002880.4:c.1688G>A (RAF1) MANE Select	NP_002871.1:p.Arg563Gln
NR_148940.3:n.2132G>A (RAF1)
NR_148941.3:n.2078G>A (RAF1)
NR_148942.3:n.2017G>A (RAF1)