Canonical Allele Identifier: CA432272845

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1773460
• ClinVar RCV Id: RCV002397034
• dbSNP Id: rs2058313525
• MyVariant Identifiers: chr3:g.12627240T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585741T>C , CM000665.2:g.12585741T>C	GRCh38
NC_000003.11:g.12627240T>C , CM000665.1:g.12627240T>C	GRCh37
NC_000003.10:g.12602240T>C	NCBI36
NG_007467.1:g.83439A>G , LRG_413:g.83439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1141A>G (RAF1)	ENSP00000401088.1:n.*1141A>G
ENST00000432427.3:c.793A>G (RAF1)
ENST00000460610.2:n.5221A>G (RAF1)
ENST00000471449.2:n.286A>G (RAF1)
ENST00000475353.2:n.3189A>G (RAF1)
ENST00000684903.1:c.*1153A>G (RAF1)	ENSP00000508612.1:n.*1153A>G
ENST00000685348.1:c.*1095-335A>G (RAF1)	ENSP00000510285.1:n.*1095-335A>G
ENST00000685437.1:c.1377A>G (RAF1)	ENSP00000508794.1:p.Val459=
ENST00000685653.1:c.1476A>G (RAF1)	ENSP00000509968.1:p.Val492=
ENST00000685697.1:n.2211A>G (RAF1)
ENST00000685738.1:c.*440A>G (RAF1)	ENSP00000510156.1:n.*440A>G
ENST00000686409.1:n.4318A>G (RAF1)
ENST00000686455.1:n.3630A>G (RAF1)
ENST00000686762.1:c.*35A>G (RAF1)	ENSP00000509767.1:n.*35A>G
ENST00000687257.1:n.3503A>G (RAF1)
ENST00000687326.1:c.*2201A>G (RAF1)	ENSP00000509665.1:n.*2201A>G
ENST00000687505.1:n.1594A>G (RAF1)
ENST00000687923.1:c.1365A>G (RAF1)	ENSP00000510255.1:p.Val455=
ENST00000688269.1:n.2072A>G (RAF1)
ENST00000688444.1:n.3593A>G (RAF1)
ENST00000688543.1:c.1377A>G (RAF1)	ENSP00000509612.1:p.Val459=
ENST00000688625.1:c.*2845A>G (RAF1)	ENSP00000509522.1:n.*2845A>G
ENST00000688803.1:n.2965-488A>G (RAF1)
ENST00000688914.1:n.462A>G (RAF1)
ENST00000689097.1:c.*1153A>G (RAF1)	ENSP00000509756.1:n.*1153A>G
ENST00000689389.1:c.1299A>G (RAF1)	ENSP00000510213.1:p.Val433=
ENST00000689418.1:c.*2944A>G (RAF1)	ENSP00000509467.1:n.*2944A>G
ENST00000689540.1:n.3417A>G (RAF1)
ENST00000689876.1:c.1418-335A>G (RAF1)	ENSP00000508535.1:n.1418-335A>G
ENST00000689914.1:c.*410A>G (RAF1)	ENSP00000509847.1:n.*410A>G
ENST00000690397.1:c.1365A>G (RAF1)	ENSP00000508730.1:p.Val455=
ENST00000690460.1:c.1464A>G (RAF1)	ENSP00000509106.1:p.Val488=
ENST00000690585.1:c.263-488A>G (RAF1)
ENST00000690625.1:n.2512A>G (RAF1)
ENST00000691396.1:c.*1348A>G (RAF1)	ENSP00000510712.1:n.*1348A>G
ENST00000691643.1:n.2102A>G (RAF1)
ENST00000691724.1:c.*433A>G (RAF1)	ENSP00000509255.1:n.*433A>G
ENST00000691779.1:c.*1054A>G (RAF1)	ENSP00000508592.1:n.*1054A>G
ENST00000691888.1:c.350A>G (RAF1)
ENST00000691899.1:c.1476A>G (RAF1)	ENSP00000508763.1:p.Val492=
ENST00000692069.1:n.3833A>G (RAF1)
ENST00000692093.1:c.1377A>G (RAF1)	ENSP00000509669.1:p.Val459=
ENST00000692311.1:n.2300A>G (RAF1)
ENST00000692558.1:n.3632A>G (RAF1)
ENST00000692773.1:c.*1213A>G (RAF1)	ENSP00000509055.1:n.*1213A>G
ENST00000692830.1:c.*1221A>G (RAF1)	ENSP00000509461.1:n.*1221A>G
ENST00000693312.1:c.1251A>G (RAF1)	ENSP00000508686.1:p.Val417=
ENST00000693664.1:c.1488-488A>G (RAF1)	ENSP00000509614.1:n.1488-488A>G
ENST00000693705.1:c.*1048-760A>G (RAF1)	ENSP00000510697.1:n.*1048-760A>G
ENST00000251849.9:c.1476A>G (RAF1) MANE Select	ENSP00000251849.4:p.Val492=
ENST00000442415.7:c.1536A>G (RAF1)	ENSP00000401888.2:p.Val512=
ENST00000676541.1:c.*3488T>C (MKRN2)	ENSP00000503730.1:n.*3488T>C
ENST00000677142.1:c.*3488T>C (MKRN2)	ENSP00000504455.1:n.*3488T>C
ENST00000677816.1:c.*2043T>C (MKRN2)	ENSP00000502893.1:n.*2043T>C
ENST00000677941.1:n.3551T>C (MKRN2)
ENST00000251849.8:c.1476A>G (RAF1)	ENSP00000251849.4:p.Val492=
ENST00000423275.5:c.*1153A>G (RAF1)	ENSP00000401088.1:n.*1153A>G
ENST00000432427.2:c.1113A>G (RAF1)	ENSP00000398591.2:p.Val371=
ENST00000442415.6:c.1536A>G (RAF1)	ENSP00000401888.2:p.Val512=
ENST00000471449.1:n.165A>G (RAF1)
NM_002880.3:c.1476A>G , LRG_413t1:c.1476A>G (RAF1)	NP_002871.1:p.Val492=
XM_005265355.1:c.1476A>G (RAF1)	XP_005265412.1:p.Val492=
XM_005265357.1:c.1377A>G (RAF1)	XP_005265414.1:p.Val459=
XM_005265358.3:c.1233A>G (RAF1)	XP_005265415.1:p.Val411=
XM_005265359.3:c.1134A>G (RAF1)	XP_005265416.1:p.Val378=
XM_005265360.1:c.1418-335A>G (RAF1)	XP_005265417.1:n.1418-335A>G
XM_011533974.1:c.1476A>G (RAF1)	XP_011532276.1:p.Val492=
XM_011533975.1:c.1233A>G (RAF1)	XP_011532277.1:p.Val411=
NM_001354689.1:c.1536A>G (RAF1)	NP_001341618.1:p.Val512=
NM_001354690.1:c.1476A>G (RAF1)	NP_001341619.1:p.Val492=
NM_001354691.1:c.1233A>G (RAF1)	NP_001341620.1:p.Val411=
NM_001354692.1:c.1233A>G (RAF1)	NP_001341621.1:p.Val411=
NM_001354693.1:c.1377A>G (RAF1)	NP_001341622.1:p.Val459=
NM_001354694.1:c.1293A>G (RAF1)	NP_001341623.1:p.Val431=
NM_001354695.1:c.1134A>G (RAF1)	NP_001341624.1:p.Val378=
NR_148940.1:n.2004A>G (RAF1)
NR_148941.1:n.1950A>G (RAF1)
NR_148942.1:n.1889A>G (RAF1)
XM_011533974.3:c.1476A>G (RAF1)	XP_011532276.1:p.Val492=
XM_017006966.1:c.1377A>G (RAF1)	XP_016862455.1:p.Val459=
NM_001354689.3:c.1536A>G (RAF1)	NP_001341618.1:p.Val512=
NM_001354690.2:c.1476A>G (RAF1)	NP_001341619.1:p.Val492=
NM_001354691.2:c.1233A>G (RAF1)	NP_001341620.1:p.Val411=
NM_001354692.2:c.1233A>G (RAF1)	NP_001341621.1:p.Val411=
NM_001354693.2:c.1377A>G (RAF1)	NP_001341622.1:p.Val459=
NM_001354694.2:c.1293A>G (RAF1)	NP_001341623.1:p.Val431=
NM_001354695.2:c.1134A>G (RAF1)	NP_001341624.1:p.Val378=
NR_148940.2:n.1920A>G (RAF1)
NR_148941.2:n.1866A>G (RAF1)
NR_148942.2:n.1805A>G (RAF1)
NM_001354690.3:c.1476A>G (RAF1)	NP_001341619.1:p.Val492=
NM_001354691.3:c.1233A>G (RAF1)	NP_001341620.1:p.Val411=
NM_001354692.3:c.1233A>G (RAF1)	NP_001341621.1:p.Val411=
NM_001354693.3:c.1377A>G (RAF1)	NP_001341622.1:p.Val459=
NM_001354694.3:c.1293A>G (RAF1)	NP_001341623.1:p.Val431=
NM_001354695.3:c.1134A>G (RAF1)	NP_001341624.1:p.Val378=
NM_002880.4:c.1476A>G (RAF1) MANE Select	NP_002871.1:p.Val492=
NR_148940.3:n.1920A>G (RAF1)
NR_148941.3:n.1866A>G (RAF1)
NR_148942.3:n.1805A>G (RAF1)