Canonical Allele Identifier: CA351496846

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626437C>A (hg19) ; chr3:g.12584938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584938C>A , CM000665.2:g.12584938C>A	GRCh38
NC_000003.11:g.12626437C>A , CM000665.1:g.12626437C>A	GRCh37
NC_000003.10:g.12601437C>A	NCBI36
NG_007467.1:g.84242G>T , LRG_413:g.84242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1377G>T (RAF1)	ENSP00000401088.1:n.*1377G>T
ENST00000432427.3:c.1029G>T (RAF1)
ENST00000460610.2:n.6024G>T (RAF1)
ENST00000471449.2:n.522G>T (RAF1)
ENST00000475353.2:n.3992G>T (RAF1)
ENST00000684903.1:c.*1389G>T (RAF1)	ENSP00000508612.1:n.*1389G>T
ENST00000685348.1:c.*1423G>T (RAF1)	ENSP00000510285.1:n.*1423G>T
ENST00000685437.1:c.1613G>T (RAF1)	ENSP00000508794.1:p.Ser538Ile
ENST00000685653.1:c.1712G>T (RAF1)	ENSP00000509968.1:p.Ser571Ile
ENST00000685697.1:n.2447G>T (RAF1)
ENST00000685738.1:c.*676G>T (RAF1)	ENSP00000510156.1:n.*676G>T
ENST00000686409.1:n.5121G>T (RAF1)
ENST00000686455.1:n.4433G>T (RAF1)
ENST00000686762.1:c.*271G>T (RAF1)	ENSP00000509767.1:n.*271G>T
ENST00000687257.1:n.4166G>T (RAF1)
ENST00000687326.1:c.*3004G>T (RAF1)	ENSP00000509665.1:n.*3004G>T
ENST00000687505.1:n.1830G>T (RAF1)
ENST00000687923.1:c.1601G>T (RAF1)	ENSP00000510255.1:p.Ser534Ile
ENST00000688269.1:n.2308G>T (RAF1)
ENST00000688444.1:n.3829G>T (RAF1)
ENST00000688543.1:c.1613G>T (RAF1)	ENSP00000509612.1:p.Ser538Ile
ENST00000688625.1:c.*3081G>T (RAF1)	ENSP00000509522.1:n.*3081G>T
ENST00000688803.1:n.3140G>T (RAF1)
ENST00000688914.1:n.1125G>T (RAF1)
ENST00000689097.1:c.*1389G>T (RAF1)	ENSP00000509756.1:n.*1389G>T
ENST00000689389.1:c.1535G>T (RAF1)	ENSP00000510213.1:p.Ser512Ile
ENST00000689418.1:c.*3607G>T (RAF1)	ENSP00000509467.1:n.*3607G>T
ENST00000689540.1:n.4080G>T (RAF1)
ENST00000689876.1:c.*261G>T (RAF1)	ENSP00000508535.1:n.*261G>T
ENST00000689914.1:c.*646G>T (RAF1)	ENSP00000509847.1:n.*646G>T
ENST00000690397.1:c.1601G>T (RAF1)	ENSP00000508730.1:p.Ser534Ile
ENST00000690460.1:c.1700G>T (RAF1)	ENSP00000509106.1:p.Ser567Ile
ENST00000690585.1:c.438G>T (RAF1)
ENST00000690625.1:n.2748G>T (RAF1)
ENST00000691396.1:c.*1584G>T (RAF1)	ENSP00000510712.1:n.*1584G>T
ENST00000691643.1:n.2765G>T (RAF1)
ENST00000691724.1:c.*669G>T (RAF1)	ENSP00000509255.1:n.*669G>T
ENST00000691779.1:c.*1290G>T (RAF1)	ENSP00000508592.1:n.*1290G>T
ENST00000691888.1:c.586G>T (RAF1)
ENST00000691899.1:c.1712G>T (RAF1)	ENSP00000508763.1:p.Ser571Ile
ENST00000692069.1:n.4636G>T (RAF1)
ENST00000692093.1:c.1613G>T (RAF1)	ENSP00000509669.1:p.Ser538Ile
ENST00000692311.1:n.2536G>T (RAF1)
ENST00000692558.1:n.4295G>T (RAF1)
ENST00000692773.1:c.*1449G>T (RAF1)	ENSP00000509055.1:n.*1449G>T
ENST00000692830.1:c.*1457G>T (RAF1)	ENSP00000509461.1:n.*1457G>T
ENST00000693312.1:c.1487G>T (RAF1)	ENSP00000508686.1:p.Ser496Ile
ENST00000693664.1:c.*163G>T (RAF1)	ENSP00000509614.1:n.*163G>T
ENST00000693705.1:c.*1091G>T (RAF1)	ENSP00000510697.1:n.*1091G>T
ENST00000251849.9:c.1712G>T (RAF1) MANE Select	ENSP00000251849.4:p.Ser571Ile
ENST00000442415.7:c.1772G>T (RAF1)	ENSP00000401888.2:p.Ser591Ile
ENST00000676541.1:c.*2685C>A (MKRN2)	ENSP00000503730.1:n.*2685C>A
ENST00000677142.1:c.*2685C>A (MKRN2)	ENSP00000504455.1:n.*2685C>A
ENST00000677816.1:c.*1240C>A (MKRN2)	ENSP00000502893.1:n.*1240C>A
ENST00000677941.1:n.2748C>A (MKRN2)
ENST00000251849.8:c.1712G>T (RAF1)	ENSP00000251849.4:p.Ser571Ile
ENST00000423275.5:c.*1389G>T (RAF1)	ENSP00000401088.1:n.*1389G>T
ENST00000432427.2:c.1349G>T (RAF1)	ENSP00000398591.2:p.Ser450Ile
ENST00000442415.6:c.1772G>T (RAF1)	ENSP00000401888.2:p.Ser591Ile
ENST00000471449.1:n.401G>T (RAF1)
NM_002880.3:c.1712G>T , LRG_413t1:c.1712G>T (RAF1)	NP_002871.1:p.Ser571Ile
XM_005265355.1:c.1712G>T (RAF1)	XP_005265412.1:p.Ser571Ile
XM_005265357.1:c.1613G>T (RAF1)	XP_005265414.1:p.Ser538Ile
XM_005265358.3:c.1469G>T (RAF1)	XP_005265415.1:p.Ser490Ile
XM_005265359.3:c.1370G>T (RAF1)	XP_005265416.1:p.Ser457Ile
XM_011533974.1:c.1712G>T (RAF1)	XP_011532276.1:p.Ser571Ile
XM_011533975.1:c.1469G>T (RAF1)	XP_011532277.1:p.Ser490Ile
NM_001354689.1:c.1772G>T (RAF1)	NP_001341618.1:p.Ser591Ile
NM_001354690.1:c.1712G>T (RAF1)	NP_001341619.1:p.Ser571Ile
NM_001354691.1:c.1469G>T (RAF1)	NP_001341620.1:p.Ser490Ile
NM_001354692.1:c.1469G>T (RAF1)	NP_001341621.1:p.Ser490Ile
NM_001354693.1:c.1613G>T (RAF1)	NP_001341622.1:p.Ser538Ile
NM_001354694.1:c.1529G>T (RAF1)	NP_001341623.1:p.Ser510Ile
NM_001354695.1:c.1370G>T (RAF1)	NP_001341624.1:p.Ser457Ile
NR_148940.1:n.2240G>T (RAF1)
NR_148941.1:n.2186G>T (RAF1)
NR_148942.1:n.2125G>T (RAF1)
XM_011533974.3:c.1712G>T (RAF1)	XP_011532276.1:p.Ser571Ile
XM_017006966.1:c.1613G>T (RAF1)	XP_016862455.1:p.Ser538Ile
NM_001354689.3:c.1772G>T (RAF1)	NP_001341618.1:p.Ser591Ile
NM_001354690.2:c.1712G>T (RAF1)	NP_001341619.1:p.Ser571Ile
NM_001354691.2:c.1469G>T (RAF1)	NP_001341620.1:p.Ser490Ile
NM_001354692.2:c.1469G>T (RAF1)	NP_001341621.1:p.Ser490Ile
NM_001354693.2:c.1613G>T (RAF1)	NP_001341622.1:p.Ser538Ile
NM_001354694.2:c.1529G>T (RAF1)	NP_001341623.1:p.Ser510Ile
NM_001354695.2:c.1370G>T (RAF1)	NP_001341624.1:p.Ser457Ile
NR_148940.2:n.2156G>T (RAF1)
NR_148941.2:n.2102G>T (RAF1)
NR_148942.2:n.2041G>T (RAF1)
NM_001354690.3:c.1712G>T (RAF1)	NP_001341619.1:p.Ser571Ile
NM_001354691.3:c.1469G>T (RAF1)	NP_001341620.1:p.Ser490Ile
NM_001354692.3:c.1469G>T (RAF1)	NP_001341621.1:p.Ser490Ile
NM_001354693.3:c.1613G>T (RAF1)	NP_001341622.1:p.Ser538Ile
NM_001354694.3:c.1529G>T (RAF1)	NP_001341623.1:p.Ser510Ile
NM_001354695.3:c.1370G>T (RAF1)	NP_001341624.1:p.Ser457Ile
NM_002880.4:c.1712G>T (RAF1) MANE Select	NP_002871.1:p.Ser571Ile
NR_148940.3:n.2156G>T (RAF1)
NR_148941.3:n.2102G>T (RAF1)
NR_148942.3:n.2041G>T (RAF1)