Canonical Allele Identifier: CA351499244

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125326474
• COSMIC: COSM5444285 ; COSM5444286
• MyVariant Identifiers: chr3:g.12627280C>T (hg19) ; chr3:g.12585781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585781C>T , CM000665.2:g.12585781C>T	GRCh38
NC_000003.11:g.12627280C>T , CM000665.1:g.12627280C>T	GRCh37
NC_000003.10:g.12602280C>T	NCBI36
NG_007467.1:g.83399G>A , LRG_413:g.83399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1101G>A (RAF1)	ENSP00000401088.1:n.*1101G>A
ENST00000432427.3:c.753G>A (RAF1)
ENST00000460610.2:n.5181G>A (RAF1)
ENST00000471449.2:n.246G>A (RAF1)
ENST00000475353.2:n.3149G>A (RAF1)
ENST00000684903.1:c.*1113G>A (RAF1)	ENSP00000508612.1:n.*1113G>A
ENST00000685348.1:c.*1095-375G>A (RAF1)	ENSP00000510285.1:n.*1095-375G>A
ENST00000685437.1:c.1337G>A (RAF1)	ENSP00000508794.1:p.Gly446Asp
ENST00000685653.1:c.1436G>A (RAF1)	ENSP00000509968.1:p.Gly479Asp
ENST00000685697.1:n.2171G>A (RAF1)
ENST00000685738.1:c.*400G>A (RAF1)	ENSP00000510156.1:n.*400G>A
ENST00000686409.1:n.4278G>A (RAF1)
ENST00000686455.1:n.3590G>A (RAF1)
ENST00000686762.1:c.1456G>A (RAF1)	ENSP00000509767.1:p.Ala486Thr
ENST00000687257.1:n.3463G>A (RAF1)
ENST00000687326.1:c.*2161G>A (RAF1)	ENSP00000509665.1:n.*2161G>A
ENST00000687505.1:n.1554G>A (RAF1)
ENST00000687923.1:c.1325G>A (RAF1)	ENSP00000510255.1:p.Gly442Asp
ENST00000688269.1:n.2032G>A (RAF1)
ENST00000688444.1:n.3553G>A (RAF1)
ENST00000688543.1:c.1337G>A (RAF1)	ENSP00000509612.1:p.Gly446Asp
ENST00000688625.1:c.*2805G>A (RAF1)	ENSP00000509522.1:n.*2805G>A
ENST00000688803.1:n.2964+494G>A (RAF1)
ENST00000688914.1:n.422G>A (RAF1)
ENST00000689097.1:c.*1113G>A (RAF1)	ENSP00000509756.1:n.*1113G>A
ENST00000689389.1:c.1259G>A (RAF1)	ENSP00000510213.1:p.Gly420Asp
ENST00000689418.1:c.*2904G>A (RAF1)	ENSP00000509467.1:n.*2904G>A
ENST00000689540.1:n.3377G>A (RAF1)
ENST00000689876.1:c.1418-375G>A (RAF1)	ENSP00000508535.1:n.1418-375G>A
ENST00000689914.1:c.*370G>A (RAF1)	ENSP00000509847.1:n.*370G>A
ENST00000690397.1:c.1325G>A (RAF1)	ENSP00000508730.1:p.Gly442Asp
ENST00000690460.1:c.1424G>A (RAF1)	ENSP00000509106.1:p.Gly475Asp
ENST00000690585.1:c.263-528G>A (RAF1)
ENST00000690625.1:n.2472G>A (RAF1)
ENST00000691396.1:c.*1308G>A (RAF1)	ENSP00000510712.1:n.*1308G>A
ENST00000691643.1:n.2062G>A (RAF1)
ENST00000691724.1:c.*393G>A (RAF1)	ENSP00000509255.1:n.*393G>A
ENST00000691779.1:c.*1014G>A (RAF1)	ENSP00000508592.1:n.*1014G>A
ENST00000691888.1:c.310G>A (RAF1)
ENST00000691899.1:c.1436G>A (RAF1)	ENSP00000508763.1:p.Gly479Asp
ENST00000692069.1:n.3793G>A (RAF1)
ENST00000692093.1:c.1337G>A (RAF1)	ENSP00000509669.1:p.Gly446Asp
ENST00000692311.1:n.2260G>A (RAF1)
ENST00000692558.1:n.3592G>A (RAF1)
ENST00000692773.1:c.*1173G>A (RAF1)	ENSP00000509055.1:n.*1173G>A
ENST00000692830.1:c.*1181G>A (RAF1)	ENSP00000509461.1:n.*1181G>A
ENST00000693312.1:c.1211G>A (RAF1)	ENSP00000508686.1:p.Gly404Asp
ENST00000693664.1:c.1487+494G>A (RAF1)	ENSP00000509614.1:n.1487+494G>A
ENST00000693705.1:c.*1048-800G>A (RAF1)	ENSP00000510697.1:n.*1048-800G>A
ENST00000251849.9:c.1436G>A (RAF1) MANE Select	ENSP00000251849.4:p.Gly479Asp
ENST00000442415.7:c.1496G>A (RAF1)	ENSP00000401888.2:p.Gly499Asp
ENST00000676541.1:c.*3528C>T (MKRN2)	ENSP00000503730.1:n.*3528C>T
ENST00000677142.1:c.*3528C>T (MKRN2)	ENSP00000504455.1:n.*3528C>T
ENST00000677816.1:c.*2083C>T (MKRN2)	ENSP00000502893.1:n.*2083C>T
ENST00000677941.1:n.3591C>T (MKRN2)
ENST00000251849.8:c.1436G>A (RAF1)	ENSP00000251849.4:p.Gly479Asp
ENST00000423275.5:c.*1113G>A (RAF1)	ENSP00000401088.1:n.*1113G>A
ENST00000432427.2:c.1073G>A (RAF1)	ENSP00000398591.2:p.Gly358Asp
ENST00000442415.6:c.1496G>A (RAF1)	ENSP00000401888.2:p.Gly499Asp
ENST00000471449.1:n.125G>A (RAF1)
NM_002880.3:c.1436G>A , LRG_413t1:c.1436G>A (RAF1)	NP_002871.1:p.Gly479Asp
XM_005265355.1:c.1436G>A (RAF1)	XP_005265412.1:p.Gly479Asp
XM_005265357.1:c.1337G>A (RAF1)	XP_005265414.1:p.Gly446Asp
XM_005265358.3:c.1193G>A (RAF1)	XP_005265415.1:p.Gly398Asp
XM_005265359.3:c.1094G>A (RAF1)	XP_005265416.1:p.Gly365Asp
XM_005265360.1:c.1418-375G>A (RAF1)	XP_005265417.1:n.1418-375G>A
XM_011533974.1:c.1436G>A (RAF1)	XP_011532276.1:p.Gly479Asp
XM_011533975.1:c.1193G>A (RAF1)	XP_011532277.1:p.Gly398Asp
NM_001354689.1:c.1496G>A (RAF1)	NP_001341618.1:p.Gly499Asp
NM_001354690.1:c.1436G>A (RAF1)	NP_001341619.1:p.Gly479Asp
NM_001354691.1:c.1193G>A (RAF1)	NP_001341620.1:p.Gly398Asp
NM_001354692.1:c.1193G>A (RAF1)	NP_001341621.1:p.Gly398Asp
NM_001354693.1:c.1337G>A (RAF1)	NP_001341622.1:p.Gly446Asp
NM_001354694.1:c.1253G>A (RAF1)	NP_001341623.1:p.Gly418Asp
NM_001354695.1:c.1094G>A (RAF1)	NP_001341624.1:p.Gly365Asp
NR_148940.1:n.1964G>A (RAF1)
NR_148941.1:n.1910G>A (RAF1)
NR_148942.1:n.1849G>A (RAF1)
XM_011533974.3:c.1436G>A (RAF1)	XP_011532276.1:p.Gly479Asp
XM_017006966.1:c.1337G>A (RAF1)	XP_016862455.1:p.Gly446Asp
NM_001354689.3:c.1496G>A (RAF1)	NP_001341618.1:p.Gly499Asp
NM_001354690.2:c.1436G>A (RAF1)	NP_001341619.1:p.Gly479Asp
NM_001354691.2:c.1193G>A (RAF1)	NP_001341620.1:p.Gly398Asp
NM_001354692.2:c.1193G>A (RAF1)	NP_001341621.1:p.Gly398Asp
NM_001354693.2:c.1337G>A (RAF1)	NP_001341622.1:p.Gly446Asp
NM_001354694.2:c.1253G>A (RAF1)	NP_001341623.1:p.Gly418Asp
NM_001354695.2:c.1094G>A (RAF1)	NP_001341624.1:p.Gly365Asp
NR_148940.2:n.1880G>A (RAF1)
NR_148941.2:n.1826G>A (RAF1)
NR_148942.2:n.1765G>A (RAF1)
NM_001354690.3:c.1436G>A (RAF1)	NP_001341619.1:p.Gly479Asp
NM_001354691.3:c.1193G>A (RAF1)	NP_001341620.1:p.Gly398Asp
NM_001354692.3:c.1193G>A (RAF1)	NP_001341621.1:p.Gly398Asp
NM_001354693.3:c.1337G>A (RAF1)	NP_001341622.1:p.Gly446Asp
NM_001354694.3:c.1253G>A (RAF1)	NP_001341623.1:p.Gly418Asp
NM_001354695.3:c.1094G>A (RAF1)	NP_001341624.1:p.Gly365Asp
NM_002880.4:c.1436G>A (RAF1) MANE Select	NP_002871.1:p.Gly479Asp
NR_148940.3:n.1880G>A (RAF1)
NR_148941.3:n.1826G>A (RAF1)
NR_148942.3:n.1765G>A (RAF1)