Canonical Allele Identifier: CA351496390

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 636805
• ClinVar RCV Id: RCV000788743 ; RCV003380710
• dbSNP Id: rs1398402832
• gnomAD v2: 3-12626347-T-C
• gnomAD v4: 3-12584848-T-C
• MyVariant Identifiers: chr3:g.12626347T>C (hg19) ; chr3:g.12584848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584848T>C , CM000665.2:g.12584848T>C	GRCh38
NC_000003.11:g.12626347T>C , CM000665.1:g.12626347T>C	GRCh37
NC_000003.10:g.12601347T>C	NCBI36
NG_007467.1:g.84332A>G , LRG_413:g.84332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1467A>G (RAF1)	ENSP00000401088.1:n.*1467A>G
ENST00000432427.3:c.1119A>G (RAF1)
ENST00000460610.2:n.6114A>G (RAF1)
ENST00000471449.2:n.612A>G (RAF1)
ENST00000475353.2:n.4082A>G (RAF1)
ENST00000684903.1:c.*1479A>G (RAF1)	ENSP00000508612.1:n.*1479A>G
ENST00000685348.1:c.*1513A>G (RAF1)	ENSP00000510285.1:n.*1513A>G
ENST00000685437.1:c.1703A>G (RAF1)	ENSP00000508794.1:p.Gln568Arg
ENST00000685653.1:c.1802A>G (RAF1)	ENSP00000509968.1:p.Gln601Arg
ENST00000685697.1:n.2537A>G (RAF1)
ENST00000685738.1:c.*766A>G (RAF1)	ENSP00000510156.1:n.*766A>G
ENST00000686409.1:n.5211A>G (RAF1)
ENST00000686455.1:n.4523A>G (RAF1)
ENST00000686762.1:c.*361A>G (RAF1)	ENSP00000509767.1:n.*361A>G
ENST00000687257.1:n.4256A>G (RAF1)
ENST00000687326.1:c.*3094A>G (RAF1)	ENSP00000509665.1:n.*3094A>G
ENST00000687505.1:n.1920A>G (RAF1)
ENST00000687923.1:c.1691A>G (RAF1)	ENSP00000510255.1:p.Gln564Arg
ENST00000688269.1:n.2398A>G (RAF1)
ENST00000688444.1:n.3919A>G (RAF1)
ENST00000688543.1:c.1703A>G (RAF1)	ENSP00000509612.1:p.Gln568Arg
ENST00000688625.1:c.*3171A>G (RAF1)	ENSP00000509522.1:n.*3171A>G
ENST00000688803.1:n.3230A>G (RAF1)
ENST00000689097.1:c.*1479A>G (RAF1)	ENSP00000509756.1:n.*1479A>G
ENST00000689389.1:c.1625A>G (RAF1)	ENSP00000510213.1:p.Gln542Arg
ENST00000689418.1:c.*3697A>G (RAF1)	ENSP00000509467.1:n.*3697A>G
ENST00000689540.1:n.4170A>G (RAF1)
ENST00000689876.1:c.*351A>G (RAF1)	ENSP00000508535.1:n.*351A>G
ENST00000689914.1:c.*736A>G (RAF1)	ENSP00000509847.1:n.*736A>G
ENST00000690397.1:c.1691A>G (RAF1)	ENSP00000508730.1:p.Gln564Arg
ENST00000690460.1:c.1790A>G (RAF1)	ENSP00000509106.1:p.Gln597Arg
ENST00000690585.1:c.528A>G (RAF1)
ENST00000690625.1:n.2838A>G (RAF1)
ENST00000691396.1:c.*1674A>G (RAF1)	ENSP00000510712.1:n.*1674A>G
ENST00000691643.1:n.2855A>G (RAF1)
ENST00000691724.1:c.*759A>G (RAF1)	ENSP00000509255.1:n.*759A>G
ENST00000691779.1:c.*1380A>G (RAF1)	ENSP00000508592.1:n.*1380A>G
ENST00000691888.1:c.676A>G (RAF1)
ENST00000691899.1:c.1802A>G (RAF1)	ENSP00000508763.1:p.Gln601Arg
ENST00000692069.1:n.4726A>G (RAF1)
ENST00000692093.1:c.1703A>G (RAF1)	ENSP00000509669.1:p.Gln568Arg
ENST00000692311.1:n.2626A>G (RAF1)
ENST00000692558.1:n.4385A>G (RAF1)
ENST00000692773.1:c.*1539A>G (RAF1)	ENSP00000509055.1:n.*1539A>G
ENST00000692830.1:c.*1547A>G (RAF1)	ENSP00000509461.1:n.*1547A>G
ENST00000693312.1:c.1577A>G (RAF1)	ENSP00000508686.1:p.Gln526Arg
ENST00000693664.1:c.*253A>G (RAF1)	ENSP00000509614.1:n.*253A>G
ENST00000693705.1:c.*1181A>G (RAF1)	ENSP00000510697.1:n.*1181A>G
ENST00000251849.9:c.1802A>G (RAF1) MANE Select	ENSP00000251849.4:p.Gln601Arg
ENST00000442415.7:c.1862A>G (RAF1)	ENSP00000401888.2:p.Gln621Arg
ENST00000676541.1:c.*2595T>C (MKRN2)	ENSP00000503730.1:n.*2595T>C
ENST00000677142.1:c.*2595T>C (MKRN2)	ENSP00000504455.1:n.*2595T>C
ENST00000677816.1:c.*1150T>C (MKRN2)	ENSP00000502893.1:n.*1150T>C
ENST00000677941.1:n.2658T>C (MKRN2)
ENST00000251849.8:c.1802A>G (RAF1)	ENSP00000251849.4:p.Gln601Arg
ENST00000423275.5:c.*1479A>G (RAF1)	ENSP00000401088.1:n.*1479A>G
ENST00000432427.2:c.1439A>G (RAF1)	ENSP00000398591.2:p.Gln480Arg
ENST00000442415.6:c.1862A>G (RAF1)	ENSP00000401888.2:p.Gln621Arg
ENST00000471449.1:n.491A>G (RAF1)
NM_002880.3:c.1802A>G , LRG_413t1:c.1802A>G (RAF1)	NP_002871.1:p.Gln601Arg
XM_005265355.1:c.1802A>G (RAF1)	XP_005265412.1:p.Gln601Arg
XM_005265357.1:c.1703A>G (RAF1)	XP_005265414.1:p.Gln568Arg
XM_005265358.3:c.1559A>G (RAF1)	XP_005265415.1:p.Gln520Arg
XM_005265359.3:c.1460A>G (RAF1)	XP_005265416.1:p.Gln487Arg
XM_011533974.1:c.1802A>G (RAF1)	XP_011532276.1:p.Gln601Arg
XM_011533975.1:c.1559A>G (RAF1)	XP_011532277.1:p.Gln520Arg
NM_001354689.1:c.1862A>G (RAF1)	NP_001341618.1:p.Gln621Arg
NM_001354690.1:c.1802A>G (RAF1)	NP_001341619.1:p.Gln601Arg
NM_001354691.1:c.1559A>G (RAF1)	NP_001341620.1:p.Gln520Arg
NM_001354692.1:c.1559A>G (RAF1)	NP_001341621.1:p.Gln520Arg
NM_001354693.1:c.1703A>G (RAF1)	NP_001341622.1:p.Gln568Arg
NM_001354694.1:c.1619A>G (RAF1)	NP_001341623.1:p.Gln540Arg
NM_001354695.1:c.1460A>G (RAF1)	NP_001341624.1:p.Gln487Arg
NR_148940.1:n.2330A>G (RAF1)
NR_148941.1:n.2276A>G (RAF1)
NR_148942.1:n.2215A>G (RAF1)
XM_011533974.3:c.1802A>G (RAF1)	XP_011532276.1:p.Gln601Arg
XM_017006966.1:c.1703A>G (RAF1)	XP_016862455.1:p.Gln568Arg
NM_001354689.3:c.1862A>G (RAF1)	NP_001341618.1:p.Gln621Arg
NM_001354690.2:c.1802A>G (RAF1)	NP_001341619.1:p.Gln601Arg
NM_001354691.2:c.1559A>G (RAF1)	NP_001341620.1:p.Gln520Arg
NM_001354692.2:c.1559A>G (RAF1)	NP_001341621.1:p.Gln520Arg
NM_001354693.2:c.1703A>G (RAF1)	NP_001341622.1:p.Gln568Arg
NM_001354694.2:c.1619A>G (RAF1)	NP_001341623.1:p.Gln540Arg
NM_001354695.2:c.1460A>G (RAF1)	NP_001341624.1:p.Gln487Arg
NR_148940.2:n.2246A>G (RAF1)
NR_148941.2:n.2192A>G (RAF1)
NR_148942.2:n.2131A>G (RAF1)
NM_001354690.3:c.1802A>G (RAF1)	NP_001341619.1:p.Gln601Arg
NM_001354691.3:c.1559A>G (RAF1)	NP_001341620.1:p.Gln520Arg
NM_001354692.3:c.1559A>G (RAF1)	NP_001341621.1:p.Gln520Arg
NM_001354693.3:c.1703A>G (RAF1)	NP_001341622.1:p.Gln568Arg
NM_001354694.3:c.1619A>G (RAF1)	NP_001341623.1:p.Gln540Arg
NM_001354695.3:c.1460A>G (RAF1)	NP_001341624.1:p.Gln487Arg
NM_002880.4:c.1802A>G (RAF1) MANE Select	NP_002871.1:p.Gln601Arg
NR_148940.3:n.2246A>G (RAF1)
NR_148941.3:n.2192A>G (RAF1)
NR_148942.3:n.2131A>G (RAF1)