Canonical Allele Identifier: CA351495943

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626104C>A (hg19) ; chr3:g.12584605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584605C>A , CM000665.2:g.12584605C>A	GRCh38
NC_000003.11:g.12626104C>A , CM000665.1:g.12626104C>A	GRCh37
NC_000003.10:g.12601104C>A	NCBI36
NG_007467.1:g.84575G>T , LRG_413:g.84575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1521G>T (RAF1)	ENSP00000401088.1:n.*1521G>T
ENST00000432427.3:c.1173G>T (RAF1)
ENST00000460610.2:n.6168G>T (RAF1)
ENST00000471449.2:n.666G>T (RAF1)
ENST00000475353.2:n.4136G>T (RAF1)
ENST00000684903.1:c.*1533G>T (RAF1)	ENSP00000508612.1:n.*1533G>T
ENST00000685348.1:c.*1567G>T (RAF1)	ENSP00000510285.1:n.*1567G>T
ENST00000685437.1:c.1757G>T (RAF1)	ENSP00000508794.1:p.Ser586Ile
ENST00000685653.1:c.1856G>T (RAF1)	ENSP00000509968.1:p.Ser619Ile
ENST00000685697.1:n.2591G>T (RAF1)
ENST00000685738.1:c.*820G>T (RAF1)	ENSP00000510156.1:n.*820G>T
ENST00000686409.1:n.5265G>T (RAF1)
ENST00000686455.1:n.4577G>T (RAF1)
ENST00000686762.1:c.*415G>T (RAF1)	ENSP00000509767.1:n.*415G>T
ENST00000687257.1:n.4310G>T (RAF1)
ENST00000687326.1:c.*3148G>T (RAF1)	ENSP00000509665.1:n.*3148G>T
ENST00000687505.1:n.1974G>T (RAF1)
ENST00000687923.1:c.1745G>T (RAF1)	ENSP00000510255.1:p.Ser582Ile
ENST00000688269.1:n.2452G>T (RAF1)
ENST00000688444.1:n.3973G>T (RAF1)
ENST00000688543.1:c.1757G>T (RAF1)	ENSP00000509612.1:p.Ser586Ile
ENST00000688625.1:c.*3225G>T (RAF1)	ENSP00000509522.1:n.*3225G>T
ENST00000688803.1:n.3284G>T (RAF1)
ENST00000689097.1:c.*1533G>T (RAF1)	ENSP00000509756.1:n.*1533G>T
ENST00000689389.1:c.1679G>T (RAF1)	ENSP00000510213.1:p.Ser560Ile
ENST00000689418.1:c.*3751G>T (RAF1)	ENSP00000509467.1:n.*3751G>T
ENST00000689540.1:n.4224G>T (RAF1)
ENST00000689876.1:c.*405G>T (RAF1)	ENSP00000508535.1:n.*405G>T
ENST00000689914.1:c.*790G>T (RAF1)	ENSP00000509847.1:n.*790G>T
ENST00000690397.1:c.1745G>T (RAF1)	ENSP00000508730.1:p.Ser582Ile
ENST00000690460.1:c.1844G>T (RAF1)	ENSP00000509106.1:p.Ser615Ile
ENST00000690585.1:c.582G>T (RAF1)
ENST00000690625.1:n.2892G>T (RAF1)
ENST00000691396.1:c.*1728G>T (RAF1)	ENSP00000510712.1:n.*1728G>T
ENST00000691643.1:n.2909G>T (RAF1)
ENST00000691724.1:c.*813G>T (RAF1)	ENSP00000509255.1:n.*813G>T
ENST00000691779.1:c.*1434G>T (RAF1)	ENSP00000508592.1:n.*1434G>T
ENST00000691888.1:c.730G>T (RAF1)
ENST00000691899.1:c.1856G>T (RAF1)	ENSP00000508763.1:p.Ser619Ile
ENST00000692069.1:n.4780G>T (RAF1)
ENST00000692093.1:c.1757G>T (RAF1)	ENSP00000509669.1:p.Ser586Ile
ENST00000692311.1:n.2680G>T (RAF1)
ENST00000692558.1:n.4439G>T (RAF1)
ENST00000692773.1:c.*1593G>T (RAF1)	ENSP00000509055.1:n.*1593G>T
ENST00000692830.1:c.*1601G>T (RAF1)	ENSP00000509461.1:n.*1601G>T
ENST00000693312.1:c.1631G>T (RAF1)	ENSP00000508686.1:p.Ser544Ile
ENST00000693664.1:c.*307G>T (RAF1)	ENSP00000509614.1:n.*307G>T
ENST00000693705.1:c.*1235G>T (RAF1)	ENSP00000510697.1:n.*1235G>T
ENST00000251849.9:c.1856G>T (RAF1) MANE Select	ENSP00000251849.4:p.Ser619Ile
ENST00000442415.7:c.1916G>T (RAF1)	ENSP00000401888.2:p.Ser639Ile
ENST00000676541.1:c.*2352C>A (MKRN2)	ENSP00000503730.1:n.*2352C>A
ENST00000677142.1:c.*2352C>A (MKRN2)	ENSP00000504455.1:n.*2352C>A
ENST00000677816.1:c.*907C>A (MKRN2)	ENSP00000502893.1:n.*907C>A
ENST00000677941.1:n.2415C>A (MKRN2)
ENST00000251849.8:c.1856G>T (RAF1)	ENSP00000251849.4:p.Ser619Ile
ENST00000423275.5:c.*1533G>T (RAF1)	ENSP00000401088.1:n.*1533G>T
ENST00000432427.2:c.1493G>T (RAF1)	ENSP00000398591.2:p.Ser498Ile
ENST00000442415.6:c.1916G>T (RAF1)	ENSP00000401888.2:p.Ser639Ile
ENST00000471449.1:n.545G>T (RAF1)
NM_002880.3:c.1856G>T , LRG_413t1:c.1856G>T (RAF1)	NP_002871.1:p.Ser619Ile
XM_005265355.1:c.1856G>T (RAF1)	XP_005265412.1:p.Ser619Ile
XM_005265357.1:c.1757G>T (RAF1)	XP_005265414.1:p.Ser586Ile
XM_005265358.3:c.1613G>T (RAF1)	XP_005265415.1:p.Ser538Ile
XM_005265359.3:c.1514G>T (RAF1)	XP_005265416.1:p.Ser505Ile
XM_011533974.1:c.1856G>T (RAF1)	XP_011532276.1:p.Ser619Ile
XM_011533975.1:c.1613G>T (RAF1)	XP_011532277.1:p.Ser538Ile
NM_001354689.1:c.1916G>T (RAF1)	NP_001341618.1:p.Ser639Ile
NM_001354690.1:c.1856G>T (RAF1)	NP_001341619.1:p.Ser619Ile
NM_001354691.1:c.1613G>T (RAF1)	NP_001341620.1:p.Ser538Ile
NM_001354692.1:c.1613G>T (RAF1)	NP_001341621.1:p.Ser538Ile
NM_001354693.1:c.1757G>T (RAF1)	NP_001341622.1:p.Ser586Ile
NM_001354694.1:c.1673G>T (RAF1)	NP_001341623.1:p.Ser558Ile
NM_001354695.1:c.1514G>T (RAF1)	NP_001341624.1:p.Ser505Ile
NR_148940.1:n.2384G>T (RAF1)
NR_148941.1:n.2330G>T (RAF1)
NR_148942.1:n.2269G>T (RAF1)
XM_011533974.3:c.1856G>T (RAF1)	XP_011532276.1:p.Ser619Ile
XM_017006966.1:c.1757G>T (RAF1)	XP_016862455.1:p.Ser586Ile
NM_001354689.3:c.1916G>T (RAF1)	NP_001341618.1:p.Ser639Ile
NM_001354690.2:c.1856G>T (RAF1)	NP_001341619.1:p.Ser619Ile
NM_001354691.2:c.1613G>T (RAF1)	NP_001341620.1:p.Ser538Ile
NM_001354692.2:c.1613G>T (RAF1)	NP_001341621.1:p.Ser538Ile
NM_001354693.2:c.1757G>T (RAF1)	NP_001341622.1:p.Ser586Ile
NM_001354694.2:c.1673G>T (RAF1)	NP_001341623.1:p.Ser558Ile
NM_001354695.2:c.1514G>T (RAF1)	NP_001341624.1:p.Ser505Ile
NR_148940.2:n.2300G>T (RAF1)
NR_148941.2:n.2246G>T (RAF1)
NR_148942.2:n.2185G>T (RAF1)
NM_001354690.3:c.1856G>T (RAF1)	NP_001341619.1:p.Ser619Ile
NM_001354691.3:c.1613G>T (RAF1)	NP_001341620.1:p.Ser538Ile
NM_001354692.3:c.1613G>T (RAF1)	NP_001341621.1:p.Ser538Ile
NM_001354693.3:c.1757G>T (RAF1)	NP_001341622.1:p.Ser586Ile
NM_001354694.3:c.1673G>T (RAF1)	NP_001341623.1:p.Ser558Ile
NM_001354695.3:c.1514G>T (RAF1)	NP_001341624.1:p.Ser505Ile
NM_002880.4:c.1856G>T (RAF1) MANE Select	NP_002871.1:p.Ser619Ile
NR_148940.3:n.2300G>T (RAF1)
NR_148941.3:n.2246G>T (RAF1)
NR_148942.3:n.2185G>T (RAF1)