Canonical Allele Identifier: CA351496176

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs747437834
• MyVariant Identifiers: chr3:g.12626139C>A (hg19) ; chr3:g.12584640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584640C>A , CM000665.2:g.12584640C>A	GRCh38
NC_000003.11:g.12626139C>A , CM000665.1:g.12626139C>A	GRCh37
NC_000003.10:g.12601139C>A	NCBI36
NG_007467.1:g.84540G>T , LRG_413:g.84540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1486G>T (RAF1)	ENSP00000401088.1:n.*1486G>T
ENST00000432427.3:c.1138G>T (RAF1)
ENST00000460610.2:n.6133G>T (RAF1)
ENST00000471449.2:n.631G>T (RAF1)
ENST00000475353.2:n.4101G>T (RAF1)
ENST00000684903.1:c.*1498G>T (RAF1)	ENSP00000508612.1:n.*1498G>T
ENST00000685348.1:c.*1532G>T (RAF1)	ENSP00000510285.1:n.*1532G>T
ENST00000685437.1:c.1722G>T (RAF1)	ENSP00000508794.1:p.Glu574Asp
ENST00000685653.1:c.1821G>T (RAF1)	ENSP00000509968.1:p.Glu607Asp
ENST00000685697.1:n.2556G>T (RAF1)
ENST00000685738.1:c.*785G>T (RAF1)	ENSP00000510156.1:n.*785G>T
ENST00000686409.1:n.5230G>T (RAF1)
ENST00000686455.1:n.4542G>T (RAF1)
ENST00000686762.1:c.*380G>T (RAF1)	ENSP00000509767.1:n.*380G>T
ENST00000687257.1:n.4275G>T (RAF1)
ENST00000687326.1:c.*3113G>T (RAF1)	ENSP00000509665.1:n.*3113G>T
ENST00000687505.1:n.1939G>T (RAF1)
ENST00000687923.1:c.1710G>T (RAF1)	ENSP00000510255.1:p.Glu570Asp
ENST00000688269.1:n.2417G>T (RAF1)
ENST00000688444.1:n.3938G>T (RAF1)
ENST00000688543.1:c.1722G>T (RAF1)	ENSP00000509612.1:p.Glu574Asp
ENST00000688625.1:c.*3190G>T (RAF1)	ENSP00000509522.1:n.*3190G>T
ENST00000688803.1:n.3249G>T (RAF1)
ENST00000689097.1:c.*1498G>T (RAF1)	ENSP00000509756.1:n.*1498G>T
ENST00000689389.1:c.1644G>T (RAF1)	ENSP00000510213.1:p.Glu548Asp
ENST00000689418.1:c.*3716G>T (RAF1)	ENSP00000509467.1:n.*3716G>T
ENST00000689540.1:n.4189G>T (RAF1)
ENST00000689876.1:c.*370G>T (RAF1)	ENSP00000508535.1:n.*370G>T
ENST00000689914.1:c.*755G>T (RAF1)	ENSP00000509847.1:n.*755G>T
ENST00000690397.1:c.1710G>T (RAF1)	ENSP00000508730.1:p.Glu570Asp
ENST00000690460.1:c.1809G>T (RAF1)	ENSP00000509106.1:p.Glu603Asp
ENST00000690585.1:c.547G>T (RAF1)
ENST00000690625.1:n.2857G>T (RAF1)
ENST00000691396.1:c.*1693G>T (RAF1)	ENSP00000510712.1:n.*1693G>T
ENST00000691643.1:n.2874G>T (RAF1)
ENST00000691724.1:c.*778G>T (RAF1)	ENSP00000509255.1:n.*778G>T
ENST00000691779.1:c.*1399G>T (RAF1)	ENSP00000508592.1:n.*1399G>T
ENST00000691888.1:c.695G>T (RAF1)
ENST00000691899.1:c.1821G>T (RAF1)	ENSP00000508763.1:p.Glu607Asp
ENST00000692069.1:n.4745G>T (RAF1)
ENST00000692093.1:c.1722G>T (RAF1)	ENSP00000509669.1:p.Glu574Asp
ENST00000692311.1:n.2645G>T (RAF1)
ENST00000692558.1:n.4404G>T (RAF1)
ENST00000692773.1:c.*1558G>T (RAF1)	ENSP00000509055.1:n.*1558G>T
ENST00000692830.1:c.*1566G>T (RAF1)	ENSP00000509461.1:n.*1566G>T
ENST00000693312.1:c.1596G>T (RAF1)	ENSP00000508686.1:p.Glu532Asp
ENST00000693664.1:c.*272G>T (RAF1)	ENSP00000509614.1:n.*272G>T
ENST00000693705.1:c.*1200G>T (RAF1)	ENSP00000510697.1:n.*1200G>T
ENST00000251849.9:c.1821G>T (RAF1) MANE Select	ENSP00000251849.4:p.Glu607Asp
ENST00000442415.7:c.1881G>T (RAF1)	ENSP00000401888.2:p.Glu627Asp
ENST00000676541.1:c.*2387C>A (MKRN2)	ENSP00000503730.1:n.*2387C>A
ENST00000677142.1:c.*2387C>A (MKRN2)	ENSP00000504455.1:n.*2387C>A
ENST00000677816.1:c.*942C>A (MKRN2)	ENSP00000502893.1:n.*942C>A
ENST00000677941.1:n.2450C>A (MKRN2)
ENST00000251849.8:c.1821G>T (RAF1)	ENSP00000251849.4:p.Glu607Asp
ENST00000423275.5:c.*1498G>T (RAF1)	ENSP00000401088.1:n.*1498G>T
ENST00000432427.2:c.1458G>T (RAF1)	ENSP00000398591.2:p.Glu486Asp
ENST00000442415.6:c.1881G>T (RAF1)	ENSP00000401888.2:p.Glu627Asp
ENST00000471449.1:n.510G>T (RAF1)
NM_002880.3:c.1821G>T , LRG_413t1:c.1821G>T (RAF1)	NP_002871.1:p.Glu607Asp
XM_005265355.1:c.1821G>T (RAF1)	XP_005265412.1:p.Glu607Asp
XM_005265357.1:c.1722G>T (RAF1)	XP_005265414.1:p.Glu574Asp
XM_005265358.3:c.1578G>T (RAF1)	XP_005265415.1:p.Glu526Asp
XM_005265359.3:c.1479G>T (RAF1)	XP_005265416.1:p.Glu493Asp
XM_011533974.1:c.1821G>T (RAF1)	XP_011532276.1:p.Glu607Asp
XM_011533975.1:c.1578G>T (RAF1)	XP_011532277.1:p.Glu526Asp
NM_001354689.1:c.1881G>T (RAF1)	NP_001341618.1:p.Glu627Asp
NM_001354690.1:c.1821G>T (RAF1)	NP_001341619.1:p.Glu607Asp
NM_001354691.1:c.1578G>T (RAF1)	NP_001341620.1:p.Glu526Asp
NM_001354692.1:c.1578G>T (RAF1)	NP_001341621.1:p.Glu526Asp
NM_001354693.1:c.1722G>T (RAF1)	NP_001341622.1:p.Glu574Asp
NM_001354694.1:c.1638G>T (RAF1)	NP_001341623.1:p.Glu546Asp
NM_001354695.1:c.1479G>T (RAF1)	NP_001341624.1:p.Glu493Asp
NR_148940.1:n.2349G>T (RAF1)
NR_148941.1:n.2295G>T (RAF1)
NR_148942.1:n.2234G>T (RAF1)
XM_011533974.3:c.1821G>T (RAF1)	XP_011532276.1:p.Glu607Asp
XM_017006966.1:c.1722G>T (RAF1)	XP_016862455.1:p.Glu574Asp
NM_001354689.3:c.1881G>T (RAF1)	NP_001341618.1:p.Glu627Asp
NM_001354690.2:c.1821G>T (RAF1)	NP_001341619.1:p.Glu607Asp
NM_001354691.2:c.1578G>T (RAF1)	NP_001341620.1:p.Glu526Asp
NM_001354692.2:c.1578G>T (RAF1)	NP_001341621.1:p.Glu526Asp
NM_001354693.2:c.1722G>T (RAF1)	NP_001341622.1:p.Glu574Asp
NM_001354694.2:c.1638G>T (RAF1)	NP_001341623.1:p.Glu546Asp
NM_001354695.2:c.1479G>T (RAF1)	NP_001341624.1:p.Glu493Asp
NR_148940.2:n.2265G>T (RAF1)
NR_148941.2:n.2211G>T (RAF1)
NR_148942.2:n.2150G>T (RAF1)
NM_001354690.3:c.1821G>T (RAF1)	NP_001341619.1:p.Glu607Asp
NM_001354691.3:c.1578G>T (RAF1)	NP_001341620.1:p.Glu526Asp
NM_001354692.3:c.1578G>T (RAF1)	NP_001341621.1:p.Glu526Asp
NM_001354693.3:c.1722G>T (RAF1)	NP_001341622.1:p.Glu574Asp
NM_001354694.3:c.1638G>T (RAF1)	NP_001341623.1:p.Glu546Asp
NM_001354695.3:c.1479G>T (RAF1)	NP_001341624.1:p.Glu493Asp
NM_002880.4:c.1821G>T (RAF1) MANE Select	NP_002871.1:p.Glu607Asp
NR_148940.3:n.2265G>T (RAF1)
NR_148941.3:n.2211G>T (RAF1)
NR_148942.3:n.2150G>T (RAF1)