Canonical Allele Identifier: CA69602886

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1919677
• ClinVar RCV Id: RCV002594936
• dbSNP Id: rs747395643
• gnomAD v2: 3-12626424-C-G
• gnomAD v4: 3-12584925-C-G
• MyVariant Identifiers: chr3:g.12626424C>G (hg19) ; chr3:g.12584925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584925C>G , CM000665.2:g.12584925C>G	GRCh38
NC_000003.11:g.12626424C>G , CM000665.1:g.12626424C>G	GRCh37
NC_000003.10:g.12601424C>G	NCBI36
NG_007467.1:g.84255G>C , LRG_413:g.84255G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1390G>C (RAF1)	ENSP00000401088.1:n.*1390G>C
ENST00000432427.3:c.1042G>C (RAF1)
ENST00000460610.2:n.6037G>C (RAF1)
ENST00000471449.2:n.535G>C (RAF1)
ENST00000475353.2:n.4005G>C (RAF1)
ENST00000684903.1:c.*1402G>C (RAF1)	ENSP00000508612.1:n.*1402G>C
ENST00000685348.1:c.*1436G>C (RAF1)	ENSP00000510285.1:n.*1436G>C
ENST00000685437.1:c.1626G>C (RAF1)	ENSP00000508794.1:p.Lys542Asn
ENST00000685653.1:c.1725G>C (RAF1)	ENSP00000509968.1:p.Lys575Asn
ENST00000685697.1:n.2460G>C (RAF1)
ENST00000685738.1:c.*689G>C (RAF1)	ENSP00000510156.1:n.*689G>C
ENST00000686409.1:n.5134G>C (RAF1)
ENST00000686455.1:n.4446G>C (RAF1)
ENST00000686762.1:c.*284G>C (RAF1)	ENSP00000509767.1:n.*284G>C
ENST00000687257.1:n.4179G>C (RAF1)
ENST00000687326.1:c.*3017G>C (RAF1)	ENSP00000509665.1:n.*3017G>C
ENST00000687505.1:n.1843G>C (RAF1)
ENST00000687923.1:c.1614G>C (RAF1)	ENSP00000510255.1:p.Lys538Asn
ENST00000688269.1:n.2321G>C (RAF1)
ENST00000688444.1:n.3842G>C (RAF1)
ENST00000688543.1:c.1626G>C (RAF1)	ENSP00000509612.1:p.Lys542Asn
ENST00000688625.1:c.*3094G>C (RAF1)	ENSP00000509522.1:n.*3094G>C
ENST00000688803.1:n.3153G>C (RAF1)
ENST00000688914.1:n.1138G>C (RAF1)
ENST00000689097.1:c.*1402G>C (RAF1)	ENSP00000509756.1:n.*1402G>C
ENST00000689389.1:c.1548G>C (RAF1)	ENSP00000510213.1:p.Lys516Asn
ENST00000689418.1:c.*3620G>C (RAF1)	ENSP00000509467.1:n.*3620G>C
ENST00000689540.1:n.4093G>C (RAF1)
ENST00000689876.1:c.*274G>C (RAF1)	ENSP00000508535.1:n.*274G>C
ENST00000689914.1:c.*659G>C (RAF1)	ENSP00000509847.1:n.*659G>C
ENST00000690397.1:c.1614G>C (RAF1)	ENSP00000508730.1:p.Lys538Asn
ENST00000690460.1:c.1713G>C (RAF1)	ENSP00000509106.1:p.Lys571Asn
ENST00000690585.1:c.451G>C (RAF1)
ENST00000690625.1:n.2761G>C (RAF1)
ENST00000691396.1:c.*1597G>C (RAF1)	ENSP00000510712.1:n.*1597G>C
ENST00000691643.1:n.2778G>C (RAF1)
ENST00000691724.1:c.*682G>C (RAF1)	ENSP00000509255.1:n.*682G>C
ENST00000691779.1:c.*1303G>C (RAF1)	ENSP00000508592.1:n.*1303G>C
ENST00000691888.1:c.599G>C (RAF1)
ENST00000691899.1:c.1725G>C (RAF1)	ENSP00000508763.1:p.Lys575Asn
ENST00000692069.1:n.4649G>C (RAF1)
ENST00000692093.1:c.1626G>C (RAF1)	ENSP00000509669.1:p.Lys542Asn
ENST00000692311.1:n.2549G>C (RAF1)
ENST00000692558.1:n.4308G>C (RAF1)
ENST00000692773.1:c.*1462G>C (RAF1)	ENSP00000509055.1:n.*1462G>C
ENST00000692830.1:c.*1470G>C (RAF1)	ENSP00000509461.1:n.*1470G>C
ENST00000693312.1:c.1500G>C (RAF1)	ENSP00000508686.1:p.Lys500Asn
ENST00000693664.1:c.*176G>C (RAF1)	ENSP00000509614.1:n.*176G>C
ENST00000693705.1:c.*1104G>C (RAF1)	ENSP00000510697.1:n.*1104G>C
ENST00000251849.9:c.1725G>C (RAF1) MANE Select	ENSP00000251849.4:p.Lys575Asn
ENST00000442415.7:c.1785G>C (RAF1)	ENSP00000401888.2:p.Lys595Asn
ENST00000676541.1:c.*2672C>G (MKRN2)	ENSP00000503730.1:n.*2672C>G
ENST00000677142.1:c.*2672C>G (MKRN2)	ENSP00000504455.1:n.*2672C>G
ENST00000677816.1:c.*1227C>G (MKRN2)	ENSP00000502893.1:n.*1227C>G
ENST00000677941.1:n.2735C>G (MKRN2)
ENST00000251849.8:c.1725G>C (RAF1)	ENSP00000251849.4:p.Lys575Asn
ENST00000423275.5:c.*1402G>C (RAF1)	ENSP00000401088.1:n.*1402G>C
ENST00000432427.2:c.1362G>C (RAF1)	ENSP00000398591.2:p.Lys454Asn
ENST00000442415.6:c.1785G>C (RAF1)	ENSP00000401888.2:p.Lys595Asn
ENST00000471449.1:n.414G>C (RAF1)
NM_002880.3:c.1725G>C , LRG_413t1:c.1725G>C (RAF1)	NP_002871.1:p.Lys575Asn
XM_005265355.1:c.1725G>C (RAF1)	XP_005265412.1:p.Lys575Asn
XM_005265357.1:c.1626G>C (RAF1)	XP_005265414.1:p.Lys542Asn
XM_005265358.3:c.1482G>C (RAF1)	XP_005265415.1:p.Lys494Asn
XM_005265359.3:c.1383G>C (RAF1)	XP_005265416.1:p.Lys461Asn
XM_011533974.1:c.1725G>C (RAF1)	XP_011532276.1:p.Lys575Asn
XM_011533975.1:c.1482G>C (RAF1)	XP_011532277.1:p.Lys494Asn
NM_001354689.1:c.1785G>C (RAF1)	NP_001341618.1:p.Lys595Asn
NM_001354690.1:c.1725G>C (RAF1)	NP_001341619.1:p.Lys575Asn
NM_001354691.1:c.1482G>C (RAF1)	NP_001341620.1:p.Lys494Asn
NM_001354692.1:c.1482G>C (RAF1)	NP_001341621.1:p.Lys494Asn
NM_001354693.1:c.1626G>C (RAF1)	NP_001341622.1:p.Lys542Asn
NM_001354694.1:c.1542G>C (RAF1)	NP_001341623.1:p.Lys514Asn
NM_001354695.1:c.1383G>C (RAF1)	NP_001341624.1:p.Lys461Asn
NR_148940.1:n.2253G>C (RAF1)
NR_148941.1:n.2199G>C (RAF1)
NR_148942.1:n.2138G>C (RAF1)
XM_011533974.3:c.1725G>C (RAF1)	XP_011532276.1:p.Lys575Asn
XM_017006966.1:c.1626G>C (RAF1)	XP_016862455.1:p.Lys542Asn
NM_001354689.3:c.1785G>C (RAF1)	NP_001341618.1:p.Lys595Asn
NM_001354690.2:c.1725G>C (RAF1)	NP_001341619.1:p.Lys575Asn
NM_001354691.2:c.1482G>C (RAF1)	NP_001341620.1:p.Lys494Asn
NM_001354692.2:c.1482G>C (RAF1)	NP_001341621.1:p.Lys494Asn
NM_001354693.2:c.1626G>C (RAF1)	NP_001341622.1:p.Lys542Asn
NM_001354694.2:c.1542G>C (RAF1)	NP_001341623.1:p.Lys514Asn
NM_001354695.2:c.1383G>C (RAF1)	NP_001341624.1:p.Lys461Asn
NR_148940.2:n.2169G>C (RAF1)
NR_148941.2:n.2115G>C (RAF1)
NR_148942.2:n.2054G>C (RAF1)
NM_001354690.3:c.1725G>C (RAF1)	NP_001341619.1:p.Lys575Asn
NM_001354691.3:c.1482G>C (RAF1)	NP_001341620.1:p.Lys494Asn
NM_001354692.3:c.1482G>C (RAF1)	NP_001341621.1:p.Lys494Asn
NM_001354693.3:c.1626G>C (RAF1)	NP_001341622.1:p.Lys542Asn
NM_001354694.3:c.1542G>C (RAF1)	NP_001341623.1:p.Lys514Asn
NM_001354695.3:c.1383G>C (RAF1)	NP_001341624.1:p.Lys461Asn
NM_002880.4:c.1725G>C (RAF1) MANE Select	NP_002871.1:p.Lys575Asn
NR_148940.3:n.2169G>C (RAF1)
NR_148941.3:n.2115G>C (RAF1)
NR_148942.3:n.2054G>C (RAF1)