Canonical Allele Identifier: CA351496796

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 633389
• ClinVar RCV Id: RCV000781809
• dbSNP Id: rs767890715
• MyVariant Identifiers: chr3:g.12626425T>G (hg19) ; chr3:g.12584926T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584926T>G , CM000665.2:g.12584926T>G	GRCh38
NC_000003.11:g.12626425T>G , CM000665.1:g.12626425T>G	GRCh37
NC_000003.10:g.12601425T>G	NCBI36
NG_007467.1:g.84254A>C , LRG_413:g.84254A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1389A>C (RAF1)	ENSP00000401088.1:n.*1389A>C
ENST00000432427.3:c.1041A>C (RAF1)
ENST00000460610.2:n.6036A>C (RAF1)
ENST00000471449.2:n.534A>C (RAF1)
ENST00000475353.2:n.4004A>C (RAF1)
ENST00000684903.1:c.*1401A>C (RAF1)	ENSP00000508612.1:n.*1401A>C
ENST00000685348.1:c.*1435A>C (RAF1)	ENSP00000510285.1:n.*1435A>C
ENST00000685437.1:c.1625A>C (RAF1)	ENSP00000508794.1:p.Lys542Thr
ENST00000685653.1:c.1724A>C (RAF1)	ENSP00000509968.1:p.Lys575Thr
ENST00000685697.1:n.2459A>C (RAF1)
ENST00000685738.1:c.*688A>C (RAF1)	ENSP00000510156.1:n.*688A>C
ENST00000686409.1:n.5133A>C (RAF1)
ENST00000686455.1:n.4445A>C (RAF1)
ENST00000686762.1:c.*283A>C (RAF1)	ENSP00000509767.1:n.*283A>C
ENST00000687257.1:n.4178A>C (RAF1)
ENST00000687326.1:c.*3016A>C (RAF1)	ENSP00000509665.1:n.*3016A>C
ENST00000687505.1:n.1842A>C (RAF1)
ENST00000687923.1:c.1613A>C (RAF1)	ENSP00000510255.1:p.Lys538Thr
ENST00000688269.1:n.2320A>C (RAF1)
ENST00000688444.1:n.3841A>C (RAF1)
ENST00000688543.1:c.1625A>C (RAF1)	ENSP00000509612.1:p.Lys542Thr
ENST00000688625.1:c.*3093A>C (RAF1)	ENSP00000509522.1:n.*3093A>C
ENST00000688803.1:n.3152A>C (RAF1)
ENST00000688914.1:n.1137A>C (RAF1)
ENST00000689097.1:c.*1401A>C (RAF1)	ENSP00000509756.1:n.*1401A>C
ENST00000689389.1:c.1547A>C (RAF1)	ENSP00000510213.1:p.Lys516Thr
ENST00000689418.1:c.*3619A>C (RAF1)	ENSP00000509467.1:n.*3619A>C
ENST00000689540.1:n.4092A>C (RAF1)
ENST00000689876.1:c.*273A>C (RAF1)	ENSP00000508535.1:n.*273A>C
ENST00000689914.1:c.*658A>C (RAF1)	ENSP00000509847.1:n.*658A>C
ENST00000690397.1:c.1613A>C (RAF1)	ENSP00000508730.1:p.Lys538Thr
ENST00000690460.1:c.1712A>C (RAF1)	ENSP00000509106.1:p.Lys571Thr
ENST00000690585.1:c.450A>C (RAF1)
ENST00000690625.1:n.2760A>C (RAF1)
ENST00000691396.1:c.*1596A>C (RAF1)	ENSP00000510712.1:n.*1596A>C
ENST00000691643.1:n.2777A>C (RAF1)
ENST00000691724.1:c.*681A>C (RAF1)	ENSP00000509255.1:n.*681A>C
ENST00000691779.1:c.*1302A>C (RAF1)	ENSP00000508592.1:n.*1302A>C
ENST00000691888.1:c.598A>C (RAF1)
ENST00000691899.1:c.1724A>C (RAF1)	ENSP00000508763.1:p.Lys575Thr
ENST00000692069.1:n.4648A>C (RAF1)
ENST00000692093.1:c.1625A>C (RAF1)	ENSP00000509669.1:p.Lys542Thr
ENST00000692311.1:n.2548A>C (RAF1)
ENST00000692558.1:n.4307A>C (RAF1)
ENST00000692773.1:c.*1461A>C (RAF1)	ENSP00000509055.1:n.*1461A>C
ENST00000692830.1:c.*1469A>C (RAF1)	ENSP00000509461.1:n.*1469A>C
ENST00000693312.1:c.1499A>C (RAF1)	ENSP00000508686.1:p.Lys500Thr
ENST00000693664.1:c.*175A>C (RAF1)	ENSP00000509614.1:n.*175A>C
ENST00000693705.1:c.*1103A>C (RAF1)	ENSP00000510697.1:n.*1103A>C
ENST00000251849.9:c.1724A>C (RAF1) MANE Select	ENSP00000251849.4:p.Lys575Thr
ENST00000442415.7:c.1784A>C (RAF1)	ENSP00000401888.2:p.Lys595Thr
ENST00000676541.1:c.*2673T>G (MKRN2)	ENSP00000503730.1:n.*2673T>G
ENST00000677142.1:c.*2673T>G (MKRN2)	ENSP00000504455.1:n.*2673T>G
ENST00000677816.1:c.*1228T>G (MKRN2)	ENSP00000502893.1:n.*1228T>G
ENST00000677941.1:n.2736T>G (MKRN2)
ENST00000251849.8:c.1724A>C (RAF1)	ENSP00000251849.4:p.Lys575Thr
ENST00000423275.5:c.*1401A>C (RAF1)	ENSP00000401088.1:n.*1401A>C
ENST00000432427.2:c.1361A>C (RAF1)	ENSP00000398591.2:p.Lys454Thr
ENST00000442415.6:c.1784A>C (RAF1)	ENSP00000401888.2:p.Lys595Thr
ENST00000471449.1:n.413A>C (RAF1)
NM_002880.3:c.1724A>C , LRG_413t1:c.1724A>C (RAF1)	NP_002871.1:p.Lys575Thr
XM_005265355.1:c.1724A>C (RAF1)	XP_005265412.1:p.Lys575Thr
XM_005265357.1:c.1625A>C (RAF1)	XP_005265414.1:p.Lys542Thr
XM_005265358.3:c.1481A>C (RAF1)	XP_005265415.1:p.Lys494Thr
XM_005265359.3:c.1382A>C (RAF1)	XP_005265416.1:p.Lys461Thr
XM_011533974.1:c.1724A>C (RAF1)	XP_011532276.1:p.Lys575Thr
XM_011533975.1:c.1481A>C (RAF1)	XP_011532277.1:p.Lys494Thr
NM_001354689.1:c.1784A>C (RAF1)	NP_001341618.1:p.Lys595Thr
NM_001354690.1:c.1724A>C (RAF1)	NP_001341619.1:p.Lys575Thr
NM_001354691.1:c.1481A>C (RAF1)	NP_001341620.1:p.Lys494Thr
NM_001354692.1:c.1481A>C (RAF1)	NP_001341621.1:p.Lys494Thr
NM_001354693.1:c.1625A>C (RAF1)	NP_001341622.1:p.Lys542Thr
NM_001354694.1:c.1541A>C (RAF1)	NP_001341623.1:p.Lys514Thr
NM_001354695.1:c.1382A>C (RAF1)	NP_001341624.1:p.Lys461Thr
NR_148940.1:n.2252A>C (RAF1)
NR_148941.1:n.2198A>C (RAF1)
NR_148942.1:n.2137A>C (RAF1)
XM_011533974.3:c.1724A>C (RAF1)	XP_011532276.1:p.Lys575Thr
XM_017006966.1:c.1625A>C (RAF1)	XP_016862455.1:p.Lys542Thr
NM_001354689.3:c.1784A>C (RAF1)	NP_001341618.1:p.Lys595Thr
NM_001354690.2:c.1724A>C (RAF1)	NP_001341619.1:p.Lys575Thr
NM_001354691.2:c.1481A>C (RAF1)	NP_001341620.1:p.Lys494Thr
NM_001354692.2:c.1481A>C (RAF1)	NP_001341621.1:p.Lys494Thr
NM_001354693.2:c.1625A>C (RAF1)	NP_001341622.1:p.Lys542Thr
NM_001354694.2:c.1541A>C (RAF1)	NP_001341623.1:p.Lys514Thr
NM_001354695.2:c.1382A>C (RAF1)	NP_001341624.1:p.Lys461Thr
NR_148940.2:n.2168A>C (RAF1)
NR_148941.2:n.2114A>C (RAF1)
NR_148942.2:n.2053A>C (RAF1)
NM_001354690.3:c.1724A>C (RAF1)	NP_001341619.1:p.Lys575Thr
NM_001354691.3:c.1481A>C (RAF1)	NP_001341620.1:p.Lys494Thr
NM_001354692.3:c.1481A>C (RAF1)	NP_001341621.1:p.Lys494Thr
NM_001354693.3:c.1625A>C (RAF1)	NP_001341622.1:p.Lys542Thr
NM_001354694.3:c.1541A>C (RAF1)	NP_001341623.1:p.Lys514Thr
NM_001354695.3:c.1382A>C (RAF1)	NP_001341624.1:p.Lys461Thr
NM_002880.4:c.1724A>C (RAF1) MANE Select	NP_002871.1:p.Lys575Thr
NR_148940.3:n.2168A>C (RAF1)
NR_148941.3:n.2114A>C (RAF1)
NR_148942.3:n.2053A>C (RAF1)