Canonical Allele Identifier: CA351497065

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs1382601768
• gnomAD v2: 3-12626474-A-C
• MyVariant Identifiers: chr3:g.12626474A>C (hg19) ; chr3:g.12584975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584975A>C , CM000665.2:g.12584975A>C	GRCh38
NC_000003.11:g.12626474A>C , CM000665.1:g.12626474A>C	GRCh37
NC_000003.10:g.12601474A>C	NCBI36
NG_007467.1:g.84205T>G , LRG_413:g.84205T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1340T>G (RAF1)	ENSP00000401088.1:n.*1340T>G
ENST00000432427.3:c.992T>G (RAF1)
ENST00000460610.2:n.5987T>G (RAF1)
ENST00000471449.2:n.485T>G (RAF1)
ENST00000475353.2:n.3955T>G (RAF1)
ENST00000684903.1:c.*1352T>G (RAF1)	ENSP00000508612.1:n.*1352T>G
ENST00000685348.1:c.*1386T>G (RAF1)	ENSP00000510285.1:n.*1386T>G
ENST00000685437.1:c.1576T>G (RAF1)	ENSP00000508794.1:p.Phe526Val
ENST00000685653.1:c.1675T>G (RAF1)	ENSP00000509968.1:p.Phe559Val
ENST00000685697.1:n.2410T>G (RAF1)
ENST00000685738.1:c.*639T>G (RAF1)	ENSP00000510156.1:n.*639T>G
ENST00000686409.1:n.5084T>G (RAF1)
ENST00000686455.1:n.4396T>G (RAF1)
ENST00000686762.1:c.*234T>G (RAF1)	ENSP00000509767.1:n.*234T>G
ENST00000687257.1:n.4129T>G (RAF1)
ENST00000687326.1:c.*2967T>G (RAF1)	ENSP00000509665.1:n.*2967T>G
ENST00000687505.1:n.1793T>G (RAF1)
ENST00000687923.1:c.1564T>G (RAF1)	ENSP00000510255.1:p.Phe522Val
ENST00000688269.1:n.2271T>G (RAF1)
ENST00000688444.1:n.3792T>G (RAF1)
ENST00000688543.1:c.1576T>G (RAF1)	ENSP00000509612.1:p.Phe526Val
ENST00000688625.1:c.*3044T>G (RAF1)	ENSP00000509522.1:n.*3044T>G
ENST00000688803.1:n.3103T>G (RAF1)
ENST00000688914.1:n.1088T>G (RAF1)
ENST00000689097.1:c.*1352T>G (RAF1)	ENSP00000509756.1:n.*1352T>G
ENST00000689389.1:c.1498T>G (RAF1)	ENSP00000510213.1:p.Phe500Val
ENST00000689418.1:c.*3570T>G (RAF1)	ENSP00000509467.1:n.*3570T>G
ENST00000689540.1:n.4043T>G (RAF1)
ENST00000689876.1:c.*224T>G (RAF1)	ENSP00000508535.1:n.*224T>G
ENST00000689914.1:c.*609T>G (RAF1)	ENSP00000509847.1:n.*609T>G
ENST00000690397.1:c.1564T>G (RAF1)	ENSP00000508730.1:p.Phe522Val
ENST00000690460.1:c.1663T>G (RAF1)	ENSP00000509106.1:p.Phe555Val
ENST00000690585.1:c.401T>G (RAF1)
ENST00000690625.1:n.2711T>G (RAF1)
ENST00000691396.1:c.*1547T>G (RAF1)	ENSP00000510712.1:n.*1547T>G
ENST00000691643.1:n.2728T>G (RAF1)
ENST00000691724.1:c.*632T>G (RAF1)	ENSP00000509255.1:n.*632T>G
ENST00000691779.1:c.*1253T>G (RAF1)	ENSP00000508592.1:n.*1253T>G
ENST00000691888.1:c.549T>G (RAF1)
ENST00000691899.1:c.1675T>G (RAF1)	ENSP00000508763.1:p.Phe559Val
ENST00000692069.1:n.4599T>G (RAF1)
ENST00000692093.1:c.1576T>G (RAF1)	ENSP00000509669.1:p.Phe526Val
ENST00000692311.1:n.2499T>G (RAF1)
ENST00000692558.1:n.4258T>G (RAF1)
ENST00000692773.1:c.*1412T>G (RAF1)	ENSP00000509055.1:n.*1412T>G
ENST00000692830.1:c.*1420T>G (RAF1)	ENSP00000509461.1:n.*1420T>G
ENST00000693312.1:c.1450T>G (RAF1)	ENSP00000508686.1:p.Phe484Val
ENST00000693664.1:c.*126T>G (RAF1)	ENSP00000509614.1:n.*126T>G
ENST00000693705.1:c.*1054T>G (RAF1)	ENSP00000510697.1:n.*1054T>G
ENST00000251849.9:c.1675T>G (RAF1) MANE Select	ENSP00000251849.4:p.Phe559Val
ENST00000442415.7:c.1735T>G (RAF1)	ENSP00000401888.2:p.Phe579Val
ENST00000676541.1:c.*2722A>C (MKRN2)	ENSP00000503730.1:n.*2722A>C
ENST00000677142.1:c.*2722A>C (MKRN2)	ENSP00000504455.1:n.*2722A>C
ENST00000677816.1:c.*1277A>C (MKRN2)	ENSP00000502893.1:n.*1277A>C
ENST00000677941.1:n.2785A>C (MKRN2)
ENST00000251849.8:c.1675T>G (RAF1)	ENSP00000251849.4:p.Phe559Val
ENST00000423275.5:c.*1352T>G (RAF1)	ENSP00000401088.1:n.*1352T>G
ENST00000432427.2:c.1312T>G (RAF1)	ENSP00000398591.2:p.Phe438Val
ENST00000442415.6:c.1735T>G (RAF1)	ENSP00000401888.2:p.Phe579Val
ENST00000471449.1:n.364T>G (RAF1)
NM_002880.3:c.1675T>G , LRG_413t1:c.1675T>G (RAF1)	NP_002871.1:p.Phe559Val
XM_005265355.1:c.1675T>G (RAF1)	XP_005265412.1:p.Phe559Val
XM_005265357.1:c.1576T>G (RAF1)	XP_005265414.1:p.Phe526Val
XM_005265358.3:c.1432T>G (RAF1)	XP_005265415.1:p.Phe478Val
XM_005265359.3:c.1333T>G (RAF1)	XP_005265416.1:p.Phe445Val
XM_011533974.1:c.1675T>G (RAF1)	XP_011532276.1:p.Phe559Val
XM_011533975.1:c.1432T>G (RAF1)	XP_011532277.1:p.Phe478Val
NM_001354689.1:c.1735T>G (RAF1)	NP_001341618.1:p.Phe579Val
NM_001354690.1:c.1675T>G (RAF1)	NP_001341619.1:p.Phe559Val
NM_001354691.1:c.1432T>G (RAF1)	NP_001341620.1:p.Phe478Val
NM_001354692.1:c.1432T>G (RAF1)	NP_001341621.1:p.Phe478Val
NM_001354693.1:c.1576T>G (RAF1)	NP_001341622.1:p.Phe526Val
NM_001354694.1:c.1492T>G (RAF1)	NP_001341623.1:p.Phe498Val
NM_001354695.1:c.1333T>G (RAF1)	NP_001341624.1:p.Phe445Val
NR_148940.1:n.2203T>G (RAF1)
NR_148941.1:n.2149T>G (RAF1)
NR_148942.1:n.2088T>G (RAF1)
XM_011533974.3:c.1675T>G (RAF1)	XP_011532276.1:p.Phe559Val
XM_017006966.1:c.1576T>G (RAF1)	XP_016862455.1:p.Phe526Val
NM_001354689.3:c.1735T>G (RAF1)	NP_001341618.1:p.Phe579Val
NM_001354690.2:c.1675T>G (RAF1)	NP_001341619.1:p.Phe559Val
NM_001354691.2:c.1432T>G (RAF1)	NP_001341620.1:p.Phe478Val
NM_001354692.2:c.1432T>G (RAF1)	NP_001341621.1:p.Phe478Val
NM_001354693.2:c.1576T>G (RAF1)	NP_001341622.1:p.Phe526Val
NM_001354694.2:c.1492T>G (RAF1)	NP_001341623.1:p.Phe498Val
NM_001354695.2:c.1333T>G (RAF1)	NP_001341624.1:p.Phe445Val
NR_148940.2:n.2119T>G (RAF1)
NR_148941.2:n.2065T>G (RAF1)
NR_148942.2:n.2004T>G (RAF1)
NM_001354690.3:c.1675T>G (RAF1)	NP_001341619.1:p.Phe559Val
NM_001354691.3:c.1432T>G (RAF1)	NP_001341620.1:p.Phe478Val
NM_001354692.3:c.1432T>G (RAF1)	NP_001341621.1:p.Phe478Val
NM_001354693.3:c.1576T>G (RAF1)	NP_001341622.1:p.Phe526Val
NM_001354694.3:c.1492T>G (RAF1)	NP_001341623.1:p.Phe498Val
NM_001354695.3:c.1333T>G (RAF1)	NP_001341624.1:p.Phe445Val
NM_002880.4:c.1675T>G (RAF1) MANE Select	NP_002871.1:p.Phe559Val
NR_148940.3:n.2119T>G (RAF1)
NR_148941.3:n.2065T>G (RAF1)
NR_148942.3:n.2004T>G (RAF1)