Canonical Allele Identifier: CA351496681

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1779332
• ClinVar RCV Id: RCV002401531
• MyVariant Identifiers: chr3:g.12626401C>G (hg19) ; chr3:g.12584902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584902C>G , CM000665.2:g.12584902C>G	GRCh38
NC_000003.11:g.12626401C>G , CM000665.1:g.12626401C>G	GRCh37
NC_000003.10:g.12601401C>G	NCBI36
NG_007467.1:g.84278G>C , LRG_413:g.84278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1413G>C (RAF1)	ENSP00000401088.1:n.*1413G>C
ENST00000432427.3:c.1065G>C (RAF1)
ENST00000460610.2:n.6060G>C (RAF1)
ENST00000471449.2:n.558G>C (RAF1)
ENST00000475353.2:n.4028G>C (RAF1)
ENST00000684903.1:c.*1425G>C (RAF1)	ENSP00000508612.1:n.*1425G>C
ENST00000685348.1:c.*1459G>C (RAF1)	ENSP00000510285.1:n.*1459G>C
ENST00000685437.1:c.1649G>C (RAF1)	ENSP00000508794.1:p.Arg550Thr
ENST00000685653.1:c.1748G>C (RAF1)	ENSP00000509968.1:p.Arg583Thr
ENST00000685697.1:n.2483G>C (RAF1)
ENST00000685738.1:c.*712G>C (RAF1)	ENSP00000510156.1:n.*712G>C
ENST00000686409.1:n.5157G>C (RAF1)
ENST00000686455.1:n.4469G>C (RAF1)
ENST00000686762.1:c.*307G>C (RAF1)	ENSP00000509767.1:n.*307G>C
ENST00000687257.1:n.4202G>C (RAF1)
ENST00000687326.1:c.*3040G>C (RAF1)	ENSP00000509665.1:n.*3040G>C
ENST00000687505.1:n.1866G>C (RAF1)
ENST00000687923.1:c.1637G>C (RAF1)	ENSP00000510255.1:p.Arg546Thr
ENST00000688269.1:n.2344G>C (RAF1)
ENST00000688444.1:n.3865G>C (RAF1)
ENST00000688543.1:c.1649G>C (RAF1)	ENSP00000509612.1:p.Arg550Thr
ENST00000688625.1:c.*3117G>C (RAF1)	ENSP00000509522.1:n.*3117G>C
ENST00000688803.1:n.3176G>C (RAF1)
ENST00000688914.1:n.1161G>C (RAF1)
ENST00000689097.1:c.*1425G>C (RAF1)	ENSP00000509756.1:n.*1425G>C
ENST00000689389.1:c.1571G>C (RAF1)	ENSP00000510213.1:p.Arg524Thr
ENST00000689418.1:c.*3643G>C (RAF1)	ENSP00000509467.1:n.*3643G>C
ENST00000689540.1:n.4116G>C (RAF1)
ENST00000689876.1:c.*297G>C (RAF1)	ENSP00000508535.1:n.*297G>C
ENST00000689914.1:c.*682G>C (RAF1)	ENSP00000509847.1:n.*682G>C
ENST00000690397.1:c.1637G>C (RAF1)	ENSP00000508730.1:p.Arg546Thr
ENST00000690460.1:c.1736G>C (RAF1)	ENSP00000509106.1:p.Arg579Thr
ENST00000690585.1:c.474G>C (RAF1)
ENST00000690625.1:n.2784G>C (RAF1)
ENST00000691396.1:c.*1620G>C (RAF1)	ENSP00000510712.1:n.*1620G>C
ENST00000691643.1:n.2801G>C (RAF1)
ENST00000691724.1:c.*705G>C (RAF1)	ENSP00000509255.1:n.*705G>C
ENST00000691779.1:c.*1326G>C (RAF1)	ENSP00000508592.1:n.*1326G>C
ENST00000691888.1:c.622G>C (RAF1)
ENST00000691899.1:c.1748G>C (RAF1)	ENSP00000508763.1:p.Arg583Thr
ENST00000692069.1:n.4672G>C (RAF1)
ENST00000692093.1:c.1649G>C (RAF1)	ENSP00000509669.1:p.Arg550Thr
ENST00000692311.1:n.2572G>C (RAF1)
ENST00000692558.1:n.4331G>C (RAF1)
ENST00000692773.1:c.*1485G>C (RAF1)	ENSP00000509055.1:n.*1485G>C
ENST00000692830.1:c.*1493G>C (RAF1)	ENSP00000509461.1:n.*1493G>C
ENST00000693312.1:c.1523G>C (RAF1)	ENSP00000508686.1:p.Arg508Thr
ENST00000693664.1:c.*199G>C (RAF1)	ENSP00000509614.1:n.*199G>C
ENST00000693705.1:c.*1127G>C (RAF1)	ENSP00000510697.1:n.*1127G>C
ENST00000251849.9:c.1748G>C (RAF1) MANE Select	ENSP00000251849.4:p.Arg583Thr
ENST00000442415.7:c.1808G>C (RAF1)	ENSP00000401888.2:p.Arg603Thr
ENST00000676541.1:c.*2649C>G (MKRN2)	ENSP00000503730.1:n.*2649C>G
ENST00000677142.1:c.*2649C>G (MKRN2)	ENSP00000504455.1:n.*2649C>G
ENST00000677816.1:c.*1204C>G (MKRN2)	ENSP00000502893.1:n.*1204C>G
ENST00000677941.1:n.2712C>G (MKRN2)
ENST00000251849.8:c.1748G>C (RAF1)	ENSP00000251849.4:p.Arg583Thr
ENST00000423275.5:c.*1425G>C (RAF1)	ENSP00000401088.1:n.*1425G>C
ENST00000432427.2:c.1385G>C (RAF1)	ENSP00000398591.2:p.Arg462Thr
ENST00000442415.6:c.1808G>C (RAF1)	ENSP00000401888.2:p.Arg603Thr
ENST00000471449.1:n.437G>C (RAF1)
NM_002880.3:c.1748G>C , LRG_413t1:c.1748G>C (RAF1)	NP_002871.1:p.Arg583Thr
XM_005265355.1:c.1748G>C (RAF1)	XP_005265412.1:p.Arg583Thr
XM_005265357.1:c.1649G>C (RAF1)	XP_005265414.1:p.Arg550Thr
XM_005265358.3:c.1505G>C (RAF1)	XP_005265415.1:p.Arg502Thr
XM_005265359.3:c.1406G>C (RAF1)	XP_005265416.1:p.Arg469Thr
XM_011533974.1:c.1748G>C (RAF1)	XP_011532276.1:p.Arg583Thr
XM_011533975.1:c.1505G>C (RAF1)	XP_011532277.1:p.Arg502Thr
NM_001354689.1:c.1808G>C (RAF1)	NP_001341618.1:p.Arg603Thr
NM_001354690.1:c.1748G>C (RAF1)	NP_001341619.1:p.Arg583Thr
NM_001354691.1:c.1505G>C (RAF1)	NP_001341620.1:p.Arg502Thr
NM_001354692.1:c.1505G>C (RAF1)	NP_001341621.1:p.Arg502Thr
NM_001354693.1:c.1649G>C (RAF1)	NP_001341622.1:p.Arg550Thr
NM_001354694.1:c.1565G>C (RAF1)	NP_001341623.1:p.Arg522Thr
NM_001354695.1:c.1406G>C (RAF1)	NP_001341624.1:p.Arg469Thr
NR_148940.1:n.2276G>C (RAF1)
NR_148941.1:n.2222G>C (RAF1)
NR_148942.1:n.2161G>C (RAF1)
XM_011533974.3:c.1748G>C (RAF1)	XP_011532276.1:p.Arg583Thr
XM_017006966.1:c.1649G>C (RAF1)	XP_016862455.1:p.Arg550Thr
NM_001354689.3:c.1808G>C (RAF1)	NP_001341618.1:p.Arg603Thr
NM_001354690.2:c.1748G>C (RAF1)	NP_001341619.1:p.Arg583Thr
NM_001354691.2:c.1505G>C (RAF1)	NP_001341620.1:p.Arg502Thr
NM_001354692.2:c.1505G>C (RAF1)	NP_001341621.1:p.Arg502Thr
NM_001354693.2:c.1649G>C (RAF1)	NP_001341622.1:p.Arg550Thr
NM_001354694.2:c.1565G>C (RAF1)	NP_001341623.1:p.Arg522Thr
NM_001354695.2:c.1406G>C (RAF1)	NP_001341624.1:p.Arg469Thr
NR_148940.2:n.2192G>C (RAF1)
NR_148941.2:n.2138G>C (RAF1)
NR_148942.2:n.2077G>C (RAF1)
NM_001354690.3:c.1748G>C (RAF1)	NP_001341619.1:p.Arg583Thr
NM_001354691.3:c.1505G>C (RAF1)	NP_001341620.1:p.Arg502Thr
NM_001354692.3:c.1505G>C (RAF1)	NP_001341621.1:p.Arg502Thr
NM_001354693.3:c.1649G>C (RAF1)	NP_001341622.1:p.Arg550Thr
NM_001354694.3:c.1565G>C (RAF1)	NP_001341623.1:p.Arg522Thr
NM_001354695.3:c.1406G>C (RAF1)	NP_001341624.1:p.Arg469Thr
NM_002880.4:c.1748G>C (RAF1) MANE Select	NP_002871.1:p.Arg583Thr
NR_148940.3:n.2192G>C (RAF1)
NR_148941.3:n.2138G>C (RAF1)
NR_148942.3:n.2077G>C (RAF1)