Canonical Allele Identifier: CA297139

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 181514
• ClinVar RCV Id: RCV000159091 ; RCV001253127 ; RCV001850236
• dbSNP Id: rs730881006
• gnomAD v4: 3-12584581-C-T
• COSMIC: COSM4113115 ; COSM4113116
• MyVariant Identifiers: chr3:g.12626080C>T (hg19) ; chr3:g.12584581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584581C>T , CM000665.2:g.12584581C>T	GRCh38
NC_000003.11:g.12626080C>T , CM000665.1:g.12626080C>T	GRCh37
NC_000003.10:g.12601080C>T	NCBI36
NG_007467.1:g.84599G>A , LRG_413:g.84599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1545G>A (RAF1)	ENSP00000401088.1:n.*1545G>A
ENST00000432427.3:c.1197G>A (RAF1)
ENST00000460610.2:n.6192G>A (RAF1)
ENST00000471449.2:n.690G>A (RAF1)
ENST00000475353.2:n.4160G>A (RAF1)
ENST00000684903.1:c.*1557G>A (RAF1)	ENSP00000508612.1:n.*1557G>A
ENST00000685348.1:c.*1591G>A (RAF1)	ENSP00000510285.1:n.*1591G>A
ENST00000685437.1:c.1781G>A (RAF1)	ENSP00000508794.1:p.Arg594Gln
ENST00000685653.1:c.1880G>A (RAF1)	ENSP00000509968.1:p.Arg627Gln
ENST00000685697.1:n.2615G>A (RAF1)
ENST00000685738.1:c.*844G>A (RAF1)	ENSP00000510156.1:n.*844G>A
ENST00000686409.1:n.5289G>A (RAF1)
ENST00000686455.1:n.4601G>A (RAF1)
ENST00000686762.1:c.*439G>A (RAF1)	ENSP00000509767.1:n.*439G>A
ENST00000687257.1:n.4334G>A (RAF1)
ENST00000687326.1:c.*3172G>A (RAF1)	ENSP00000509665.1:n.*3172G>A
ENST00000687505.1:n.1998G>A (RAF1)
ENST00000687923.1:c.1769G>A (RAF1)	ENSP00000510255.1:p.Arg590Gln
ENST00000688269.1:n.2476G>A (RAF1)
ENST00000688444.1:n.3997G>A (RAF1)
ENST00000688543.1:c.1781G>A (RAF1)	ENSP00000509612.1:p.Arg594Gln
ENST00000688625.1:c.*3249G>A (RAF1)	ENSP00000509522.1:n.*3249G>A
ENST00000688803.1:n.3308G>A (RAF1)
ENST00000689097.1:c.*1557G>A (RAF1)	ENSP00000509756.1:n.*1557G>A
ENST00000689389.1:c.1703G>A (RAF1)	ENSP00000510213.1:p.Arg568Gln
ENST00000689418.1:c.*3775G>A (RAF1)	ENSP00000509467.1:n.*3775G>A
ENST00000689540.1:n.4248G>A (RAF1)
ENST00000689876.1:c.*429G>A (RAF1)	ENSP00000508535.1:n.*429G>A
ENST00000689914.1:c.*814G>A (RAF1)	ENSP00000509847.1:n.*814G>A
ENST00000690397.1:c.1769G>A (RAF1)	ENSP00000508730.1:p.Arg590Gln
ENST00000690460.1:c.1868G>A (RAF1)	ENSP00000509106.1:p.Arg623Gln
ENST00000690585.1:c.606G>A (RAF1)
ENST00000690625.1:n.2916G>A (RAF1)
ENST00000691396.1:c.*1752G>A (RAF1)	ENSP00000510712.1:n.*1752G>A
ENST00000691643.1:n.2933G>A (RAF1)
ENST00000691724.1:c.*837G>A (RAF1)	ENSP00000509255.1:n.*837G>A
ENST00000691779.1:c.*1458G>A (RAF1)	ENSP00000508592.1:n.*1458G>A
ENST00000691888.1:c.754G>A (RAF1)
ENST00000691899.1:c.1880G>A (RAF1)	ENSP00000508763.1:p.Arg627Gln
ENST00000692069.1:n.4804G>A (RAF1)
ENST00000692093.1:c.1781G>A (RAF1)	ENSP00000509669.1:p.Arg594Gln
ENST00000692311.1:n.2704G>A (RAF1)
ENST00000692558.1:n.4463G>A (RAF1)
ENST00000692773.1:c.*1617G>A (RAF1)	ENSP00000509055.1:n.*1617G>A
ENST00000692830.1:c.*1625G>A (RAF1)	ENSP00000509461.1:n.*1625G>A
ENST00000693312.1:c.1655G>A (RAF1)	ENSP00000508686.1:p.Arg552Gln
ENST00000693664.1:c.*331G>A (RAF1)	ENSP00000509614.1:n.*331G>A
ENST00000693705.1:c.*1259G>A (RAF1)	ENSP00000510697.1:n.*1259G>A
ENST00000251849.9:c.1880G>A (RAF1) MANE Select	ENSP00000251849.4:p.Arg627Gln
ENST00000442415.7:c.1940G>A (RAF1)	ENSP00000401888.2:p.Arg647Gln
ENST00000676541.1:c.*2328C>T (MKRN2)	ENSP00000503730.1:n.*2328C>T
ENST00000677142.1:c.*2328C>T (MKRN2)	ENSP00000504455.1:n.*2328C>T
ENST00000677816.1:c.*883C>T (MKRN2)	ENSP00000502893.1:n.*883C>T
ENST00000677941.1:n.2391C>T (MKRN2)
ENST00000251849.8:c.1880G>A (RAF1)	ENSP00000251849.4:p.Arg627Gln
ENST00000423275.5:c.*1557G>A (RAF1)	ENSP00000401088.1:n.*1557G>A
ENST00000432427.2:c.1517G>A (RAF1)	ENSP00000398591.2:p.Arg506Gln
ENST00000442415.6:c.1940G>A (RAF1)	ENSP00000401888.2:p.Arg647Gln
ENST00000471449.1:n.569G>A (RAF1)
NM_002880.3:c.1880G>A , LRG_413t1:c.1880G>A (RAF1)	NP_002871.1:p.Arg627Gln
XM_005265355.1:c.1880G>A (RAF1)	XP_005265412.1:p.Arg627Gln
XM_005265357.1:c.1781G>A (RAF1)	XP_005265414.1:p.Arg594Gln
XM_005265358.3:c.1637G>A (RAF1)	XP_005265415.1:p.Arg546Gln
XM_005265359.3:c.1538G>A (RAF1)	XP_005265416.1:p.Arg513Gln
XM_011533974.1:c.1880G>A (RAF1)	XP_011532276.1:p.Arg627Gln
XM_011533975.1:c.1637G>A (RAF1)	XP_011532277.1:p.Arg546Gln
NM_001354689.1:c.1940G>A (RAF1)	NP_001341618.1:p.Arg647Gln
NM_001354690.1:c.1880G>A (RAF1)	NP_001341619.1:p.Arg627Gln
NM_001354691.1:c.1637G>A (RAF1)	NP_001341620.1:p.Arg546Gln
NM_001354692.1:c.1637G>A (RAF1)	NP_001341621.1:p.Arg546Gln
NM_001354693.1:c.1781G>A (RAF1)	NP_001341622.1:p.Arg594Gln
NM_001354694.1:c.1697G>A (RAF1)	NP_001341623.1:p.Arg566Gln
NM_001354695.1:c.1538G>A (RAF1)	NP_001341624.1:p.Arg513Gln
NR_148940.1:n.2408G>A (RAF1)
NR_148941.1:n.2354G>A (RAF1)
NR_148942.1:n.2293G>A (RAF1)
XM_011533974.3:c.1880G>A (RAF1)	XP_011532276.1:p.Arg627Gln
XM_017006966.1:c.1781G>A (RAF1)	XP_016862455.1:p.Arg594Gln
NM_001354689.3:c.1940G>A (RAF1)	NP_001341618.1:p.Arg647Gln
NM_001354690.2:c.1880G>A (RAF1)	NP_001341619.1:p.Arg627Gln
NM_001354691.2:c.1637G>A (RAF1)	NP_001341620.1:p.Arg546Gln
NM_001354692.2:c.1637G>A (RAF1)	NP_001341621.1:p.Arg546Gln
NM_001354693.2:c.1781G>A (RAF1)	NP_001341622.1:p.Arg594Gln
NM_001354694.2:c.1697G>A (RAF1)	NP_001341623.1:p.Arg566Gln
NM_001354695.2:c.1538G>A (RAF1)	NP_001341624.1:p.Arg513Gln
NR_148940.2:n.2324G>A (RAF1)
NR_148941.2:n.2270G>A (RAF1)
NR_148942.2:n.2209G>A (RAF1)
NM_001354690.3:c.1880G>A (RAF1)	NP_001341619.1:p.Arg627Gln
NM_001354691.3:c.1637G>A (RAF1)	NP_001341620.1:p.Arg546Gln
NM_001354692.3:c.1637G>A (RAF1)	NP_001341621.1:p.Arg546Gln
NM_001354693.3:c.1781G>A (RAF1)	NP_001341622.1:p.Arg594Gln
NM_001354694.3:c.1697G>A (RAF1)	NP_001341623.1:p.Arg566Gln
NM_001354695.3:c.1538G>A (RAF1)	NP_001341624.1:p.Arg513Gln
NM_002880.4:c.1880G>A (RAF1) MANE Select	NP_002871.1:p.Arg627Gln
NR_148940.3:n.2324G>A (RAF1)
NR_148941.3:n.2270G>A (RAF1)
NR_148942.3:n.2209G>A (RAF1)