Canonical Allele Identifier: CA351496868

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626442A>C (hg19) ; chr3:g.12584943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584943A>C , CM000665.2:g.12584943A>C	GRCh38
NC_000003.11:g.12626442A>C , CM000665.1:g.12626442A>C	GRCh37
NC_000003.10:g.12601442A>C	NCBI36
NG_007467.1:g.84237T>G , LRG_413:g.84237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1372T>G (RAF1)	ENSP00000401088.1:n.*1372T>G
ENST00000432427.3:c.1024T>G (RAF1)
ENST00000460610.2:n.6019T>G (RAF1)
ENST00000471449.2:n.517T>G (RAF1)
ENST00000475353.2:n.3987T>G (RAF1)
ENST00000684903.1:c.*1384T>G (RAF1)	ENSP00000508612.1:n.*1384T>G
ENST00000685348.1:c.*1418T>G (RAF1)	ENSP00000510285.1:n.*1418T>G
ENST00000685437.1:c.1608T>G (RAF1)	ENSP00000508794.1:p.Asp536Glu
ENST00000685653.1:c.1707T>G (RAF1)	ENSP00000509968.1:p.Asp569Glu
ENST00000685697.1:n.2442T>G (RAF1)
ENST00000685738.1:c.*671T>G (RAF1)	ENSP00000510156.1:n.*671T>G
ENST00000686409.1:n.5116T>G (RAF1)
ENST00000686455.1:n.4428T>G (RAF1)
ENST00000686762.1:c.*266T>G (RAF1)	ENSP00000509767.1:n.*266T>G
ENST00000687257.1:n.4161T>G (RAF1)
ENST00000687326.1:c.*2999T>G (RAF1)	ENSP00000509665.1:n.*2999T>G
ENST00000687505.1:n.1825T>G (RAF1)
ENST00000687923.1:c.1596T>G (RAF1)	ENSP00000510255.1:p.Asp532Glu
ENST00000688269.1:n.2303T>G (RAF1)
ENST00000688444.1:n.3824T>G (RAF1)
ENST00000688543.1:c.1608T>G (RAF1)	ENSP00000509612.1:p.Asp536Glu
ENST00000688625.1:c.*3076T>G (RAF1)	ENSP00000509522.1:n.*3076T>G
ENST00000688803.1:n.3135T>G (RAF1)
ENST00000688914.1:n.1120T>G (RAF1)
ENST00000689097.1:c.*1384T>G (RAF1)	ENSP00000509756.1:n.*1384T>G
ENST00000689389.1:c.1530T>G (RAF1)	ENSP00000510213.1:p.Asp510Glu
ENST00000689418.1:c.*3602T>G (RAF1)	ENSP00000509467.1:n.*3602T>G
ENST00000689540.1:n.4075T>G (RAF1)
ENST00000689876.1:c.*256T>G (RAF1)	ENSP00000508535.1:n.*256T>G
ENST00000689914.1:c.*641T>G (RAF1)	ENSP00000509847.1:n.*641T>G
ENST00000690397.1:c.1596T>G (RAF1)	ENSP00000508730.1:p.Asp532Glu
ENST00000690460.1:c.1695T>G (RAF1)	ENSP00000509106.1:p.Asp565Glu
ENST00000690585.1:c.433T>G (RAF1)
ENST00000690625.1:n.2743T>G (RAF1)
ENST00000691396.1:c.*1579T>G (RAF1)	ENSP00000510712.1:n.*1579T>G
ENST00000691643.1:n.2760T>G (RAF1)
ENST00000691724.1:c.*664T>G (RAF1)	ENSP00000509255.1:n.*664T>G
ENST00000691779.1:c.*1285T>G (RAF1)	ENSP00000508592.1:n.*1285T>G
ENST00000691888.1:c.581T>G (RAF1)
ENST00000691899.1:c.1707T>G (RAF1)	ENSP00000508763.1:p.Asp569Glu
ENST00000692069.1:n.4631T>G (RAF1)
ENST00000692093.1:c.1608T>G (RAF1)	ENSP00000509669.1:p.Asp536Glu
ENST00000692311.1:n.2531T>G (RAF1)
ENST00000692558.1:n.4290T>G (RAF1)
ENST00000692773.1:c.*1444T>G (RAF1)	ENSP00000509055.1:n.*1444T>G
ENST00000692830.1:c.*1452T>G (RAF1)	ENSP00000509461.1:n.*1452T>G
ENST00000693312.1:c.1482T>G (RAF1)	ENSP00000508686.1:p.Asp494Glu
ENST00000693664.1:c.*158T>G (RAF1)	ENSP00000509614.1:n.*158T>G
ENST00000693705.1:c.*1086T>G (RAF1)	ENSP00000510697.1:n.*1086T>G
ENST00000251849.9:c.1707T>G (RAF1) MANE Select	ENSP00000251849.4:p.Asp569Glu
ENST00000442415.7:c.1767T>G (RAF1)	ENSP00000401888.2:p.Asp589Glu
ENST00000676541.1:c.*2690A>C (MKRN2)	ENSP00000503730.1:n.*2690A>C
ENST00000677142.1:c.*2690A>C (MKRN2)	ENSP00000504455.1:n.*2690A>C
ENST00000677816.1:c.*1245A>C (MKRN2)	ENSP00000502893.1:n.*1245A>C
ENST00000677941.1:n.2753A>C (MKRN2)
ENST00000251849.8:c.1707T>G (RAF1)	ENSP00000251849.4:p.Asp569Glu
ENST00000423275.5:c.*1384T>G (RAF1)	ENSP00000401088.1:n.*1384T>G
ENST00000432427.2:c.1344T>G (RAF1)	ENSP00000398591.2:p.Asp448Glu
ENST00000442415.6:c.1767T>G (RAF1)	ENSP00000401888.2:p.Asp589Glu
ENST00000471449.1:n.396T>G (RAF1)
NM_002880.3:c.1707T>G , LRG_413t1:c.1707T>G (RAF1)	NP_002871.1:p.Asp569Glu
XM_005265355.1:c.1707T>G (RAF1)	XP_005265412.1:p.Asp569Glu
XM_005265357.1:c.1608T>G (RAF1)	XP_005265414.1:p.Asp536Glu
XM_005265358.3:c.1464T>G (RAF1)	XP_005265415.1:p.Asp488Glu
XM_005265359.3:c.1365T>G (RAF1)	XP_005265416.1:p.Asp455Glu
XM_011533974.1:c.1707T>G (RAF1)	XP_011532276.1:p.Asp569Glu
XM_011533975.1:c.1464T>G (RAF1)	XP_011532277.1:p.Asp488Glu
NM_001354689.1:c.1767T>G (RAF1)	NP_001341618.1:p.Asp589Glu
NM_001354690.1:c.1707T>G (RAF1)	NP_001341619.1:p.Asp569Glu
NM_001354691.1:c.1464T>G (RAF1)	NP_001341620.1:p.Asp488Glu
NM_001354692.1:c.1464T>G (RAF1)	NP_001341621.1:p.Asp488Glu
NM_001354693.1:c.1608T>G (RAF1)	NP_001341622.1:p.Asp536Glu
NM_001354694.1:c.1524T>G (RAF1)	NP_001341623.1:p.Asp508Glu
NM_001354695.1:c.1365T>G (RAF1)	NP_001341624.1:p.Asp455Glu
NR_148940.1:n.2235T>G (RAF1)
NR_148941.1:n.2181T>G (RAF1)
NR_148942.1:n.2120T>G (RAF1)
XM_011533974.3:c.1707T>G (RAF1)	XP_011532276.1:p.Asp569Glu
XM_017006966.1:c.1608T>G (RAF1)	XP_016862455.1:p.Asp536Glu
NM_001354689.3:c.1767T>G (RAF1)	NP_001341618.1:p.Asp589Glu
NM_001354690.2:c.1707T>G (RAF1)	NP_001341619.1:p.Asp569Glu
NM_001354691.2:c.1464T>G (RAF1)	NP_001341620.1:p.Asp488Glu
NM_001354692.2:c.1464T>G (RAF1)	NP_001341621.1:p.Asp488Glu
NM_001354693.2:c.1608T>G (RAF1)	NP_001341622.1:p.Asp536Glu
NM_001354694.2:c.1524T>G (RAF1)	NP_001341623.1:p.Asp508Glu
NM_001354695.2:c.1365T>G (RAF1)	NP_001341624.1:p.Asp455Glu
NR_148940.2:n.2151T>G (RAF1)
NR_148941.2:n.2097T>G (RAF1)
NR_148942.2:n.2036T>G (RAF1)
NM_001354690.3:c.1707T>G (RAF1)	NP_001341619.1:p.Asp569Glu
NM_001354691.3:c.1464T>G (RAF1)	NP_001341620.1:p.Asp488Glu
NM_001354692.3:c.1464T>G (RAF1)	NP_001341621.1:p.Asp488Glu
NM_001354693.3:c.1608T>G (RAF1)	NP_001341622.1:p.Asp536Glu
NM_001354694.3:c.1524T>G (RAF1)	NP_001341623.1:p.Asp508Glu
NM_001354695.3:c.1365T>G (RAF1)	NP_001341624.1:p.Asp455Glu
NM_002880.4:c.1707T>G (RAF1) MANE Select	NP_002871.1:p.Asp569Glu
NR_148940.3:n.2151T>G (RAF1)
NR_148941.3:n.2097T>G (RAF1)
NR_148942.3:n.2036T>G (RAF1)