Canonical Allele Identifier: CA351498921

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125325704
• MyVariant Identifiers: chr3:g.12627206G>C (hg19) ; chr3:g.12585707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585707G>C , CM000665.2:g.12585707G>C	GRCh38
NC_000003.11:g.12627206G>C , CM000665.1:g.12627206G>C	GRCh37
NC_000003.10:g.12602206G>C	NCBI36
NG_007467.1:g.83473C>G , LRG_413:g.83473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1175C>G (RAF1)	ENSP00000401088.1:n.*1175C>G
ENST00000432427.3:c.827C>G (RAF1)
ENST00000460610.2:n.5255C>G (RAF1)
ENST00000471449.2:n.320C>G (RAF1)
ENST00000475353.2:n.3223C>G (RAF1)
ENST00000684903.1:c.*1187C>G (RAF1)	ENSP00000508612.1:n.*1187C>G
ENST00000685348.1:c.*1095-301C>G (RAF1)	ENSP00000510285.1:n.*1095-301C>G
ENST00000685437.1:c.1411C>G (RAF1)	ENSP00000508794.1:p.Gln471Glu
ENST00000685653.1:c.1510C>G (RAF1)	ENSP00000509968.1:p.Gln504Glu
ENST00000685697.1:n.2245C>G (RAF1)
ENST00000685738.1:c.*474C>G (RAF1)	ENSP00000510156.1:n.*474C>G
ENST00000686409.1:n.4352C>G (RAF1)
ENST00000686455.1:n.3664C>G (RAF1)
ENST00000686762.1:c.*69C>G (RAF1)	ENSP00000509767.1:n.*69C>G
ENST00000687257.1:n.3537C>G (RAF1)
ENST00000687326.1:c.*2235C>G (RAF1)	ENSP00000509665.1:n.*2235C>G
ENST00000687505.1:n.1628C>G (RAF1)
ENST00000687923.1:c.1399C>G (RAF1)	ENSP00000510255.1:p.Gln467Glu
ENST00000688269.1:n.2106C>G (RAF1)
ENST00000688444.1:n.3627C>G (RAF1)
ENST00000688543.1:c.1411C>G (RAF1)	ENSP00000509612.1:p.Gln471Glu
ENST00000688625.1:c.*2879C>G (RAF1)	ENSP00000509522.1:n.*2879C>G
ENST00000688803.1:n.2965-454C>G (RAF1)
ENST00000688914.1:n.496C>G (RAF1)
ENST00000689097.1:c.*1187C>G (RAF1)	ENSP00000509756.1:n.*1187C>G
ENST00000689389.1:c.1333C>G (RAF1)	ENSP00000510213.1:p.Gln445Glu
ENST00000689418.1:c.*2978C>G (RAF1)	ENSP00000509467.1:n.*2978C>G
ENST00000689540.1:n.3451C>G (RAF1)
ENST00000689876.1:c.1418-301C>G (RAF1)	ENSP00000508535.1:n.1418-301C>G
ENST00000689914.1:c.*444C>G (RAF1)	ENSP00000509847.1:n.*444C>G
ENST00000690397.1:c.1399C>G (RAF1)	ENSP00000508730.1:p.Gln467Glu
ENST00000690460.1:c.1498C>G (RAF1)	ENSP00000509106.1:p.Gln500Glu
ENST00000690585.1:c.263-454C>G (RAF1)
ENST00000690625.1:n.2546C>G (RAF1)
ENST00000691396.1:c.*1382C>G (RAF1)	ENSP00000510712.1:n.*1382C>G
ENST00000691643.1:n.2136C>G (RAF1)
ENST00000691724.1:c.*467C>G (RAF1)	ENSP00000509255.1:n.*467C>G
ENST00000691779.1:c.*1088C>G (RAF1)	ENSP00000508592.1:n.*1088C>G
ENST00000691888.1:c.384C>G (RAF1)
ENST00000691899.1:c.1510C>G (RAF1)	ENSP00000508763.1:p.Gln504Glu
ENST00000692069.1:n.3867C>G (RAF1)
ENST00000692093.1:c.1411C>G (RAF1)	ENSP00000509669.1:p.Gln471Glu
ENST00000692311.1:n.2334C>G (RAF1)
ENST00000692558.1:n.3666C>G (RAF1)
ENST00000692773.1:c.*1247C>G (RAF1)	ENSP00000509055.1:n.*1247C>G
ENST00000692830.1:c.*1255C>G (RAF1)	ENSP00000509461.1:n.*1255C>G
ENST00000693312.1:c.1285C>G (RAF1)	ENSP00000508686.1:p.Gln429Glu
ENST00000693664.1:c.1488-454C>G (RAF1)	ENSP00000509614.1:n.1488-454C>G
ENST00000693705.1:c.*1048-726C>G (RAF1)	ENSP00000510697.1:n.*1048-726C>G
ENST00000251849.9:c.1510C>G (RAF1) MANE Select	ENSP00000251849.4:p.Gln504Glu
ENST00000442415.7:c.1570C>G (RAF1)	ENSP00000401888.2:p.Gln524Glu
ENST00000676541.1:c.*3454G>C (MKRN2)	ENSP00000503730.1:n.*3454G>C
ENST00000677142.1:c.*3454G>C (MKRN2)	ENSP00000504455.1:n.*3454G>C
ENST00000677816.1:c.*2009G>C (MKRN2)	ENSP00000502893.1:n.*2009G>C
ENST00000677941.1:n.3517G>C (MKRN2)
ENST00000251849.8:c.1510C>G (RAF1)	ENSP00000251849.4:p.Gln504Glu
ENST00000423275.5:c.*1187C>G (RAF1)	ENSP00000401088.1:n.*1187C>G
ENST00000432427.2:c.1147C>G (RAF1)	ENSP00000398591.2:p.Gln383Glu
ENST00000442415.6:c.1570C>G (RAF1)	ENSP00000401888.2:p.Gln524Glu
ENST00000471449.1:n.199C>G (RAF1)
NM_002880.3:c.1510C>G , LRG_413t1:c.1510C>G (RAF1)	NP_002871.1:p.Gln504Glu
XM_005265355.1:c.1510C>G (RAF1)	XP_005265412.1:p.Gln504Glu
XM_005265357.1:c.1411C>G (RAF1)	XP_005265414.1:p.Gln471Glu
XM_005265358.3:c.1267C>G (RAF1)	XP_005265415.1:p.Gln423Glu
XM_005265359.3:c.1168C>G (RAF1)	XP_005265416.1:p.Gln390Glu
XM_005265360.1:c.1418-301C>G (RAF1)	XP_005265417.1:n.1418-301C>G
XM_011533974.1:c.1510C>G (RAF1)	XP_011532276.1:p.Gln504Glu
XM_011533975.1:c.1267C>G (RAF1)	XP_011532277.1:p.Gln423Glu
NM_001354689.1:c.1570C>G (RAF1)	NP_001341618.1:p.Gln524Glu
NM_001354690.1:c.1510C>G (RAF1)	NP_001341619.1:p.Gln504Glu
NM_001354691.1:c.1267C>G (RAF1)	NP_001341620.1:p.Gln423Glu
NM_001354692.1:c.1267C>G (RAF1)	NP_001341621.1:p.Gln423Glu
NM_001354693.1:c.1411C>G (RAF1)	NP_001341622.1:p.Gln471Glu
NM_001354694.1:c.1327C>G (RAF1)	NP_001341623.1:p.Gln443Glu
NM_001354695.1:c.1168C>G (RAF1)	NP_001341624.1:p.Gln390Glu
NR_148940.1:n.2038C>G (RAF1)
NR_148941.1:n.1984C>G (RAF1)
NR_148942.1:n.1923C>G (RAF1)
XM_011533974.3:c.1510C>G (RAF1)	XP_011532276.1:p.Gln504Glu
XM_017006966.1:c.1411C>G (RAF1)	XP_016862455.1:p.Gln471Glu
NM_001354689.3:c.1570C>G (RAF1)	NP_001341618.1:p.Gln524Glu
NM_001354690.2:c.1510C>G (RAF1)	NP_001341619.1:p.Gln504Glu
NM_001354691.2:c.1267C>G (RAF1)	NP_001341620.1:p.Gln423Glu
NM_001354692.2:c.1267C>G (RAF1)	NP_001341621.1:p.Gln423Glu
NM_001354693.2:c.1411C>G (RAF1)	NP_001341622.1:p.Gln471Glu
NM_001354694.2:c.1327C>G (RAF1)	NP_001341623.1:p.Gln443Glu
NM_001354695.2:c.1168C>G (RAF1)	NP_001341624.1:p.Gln390Glu
NR_148940.2:n.1954C>G (RAF1)
NR_148941.2:n.1900C>G (RAF1)
NR_148942.2:n.1839C>G (RAF1)
NM_001354690.3:c.1510C>G (RAF1)	NP_001341619.1:p.Gln504Glu
NM_001354691.3:c.1267C>G (RAF1)	NP_001341620.1:p.Gln423Glu
NM_001354692.3:c.1267C>G (RAF1)	NP_001341621.1:p.Gln423Glu
NM_001354693.3:c.1411C>G (RAF1)	NP_001341622.1:p.Gln471Glu
NM_001354694.3:c.1327C>G (RAF1)	NP_001341623.1:p.Gln443Glu
NM_001354695.3:c.1168C>G (RAF1)	NP_001341624.1:p.Gln390Glu
NM_002880.4:c.1510C>G (RAF1) MANE Select	NP_002871.1:p.Gln504Glu
NR_148940.3:n.1954C>G (RAF1)
NR_148941.3:n.1900C>G (RAF1)
NR_148942.3:n.1839C>G (RAF1)