Canonical Allele Identifier: CA351496505

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1469736
• ClinVar RCV Id: RCV001995033
• dbSNP Id: rs2125319319
• MyVariant Identifiers: chr3:g.12626365T>G (hg19) ; chr3:g.12584866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584866T>G , CM000665.2:g.12584866T>G	GRCh38
NC_000003.11:g.12626365T>G , CM000665.1:g.12626365T>G	GRCh37
NC_000003.10:g.12601365T>G	NCBI36
NG_007467.1:g.84314A>C , LRG_413:g.84314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1449A>C (RAF1)	ENSP00000401088.1:n.*1449A>C
ENST00000432427.3:c.1101A>C (RAF1)
ENST00000460610.2:n.6096A>C (RAF1)
ENST00000471449.2:n.594A>C (RAF1)
ENST00000475353.2:n.4064A>C (RAF1)
ENST00000684903.1:c.*1461A>C (RAF1)	ENSP00000508612.1:n.*1461A>C
ENST00000685348.1:c.*1495A>C (RAF1)	ENSP00000510285.1:n.*1495A>C
ENST00000685437.1:c.1685A>C (RAF1)	ENSP00000508794.1:p.Glu562Ala
ENST00000685653.1:c.1784A>C (RAF1)	ENSP00000509968.1:p.Glu595Ala
ENST00000685697.1:n.2519A>C (RAF1)
ENST00000685738.1:c.*748A>C (RAF1)	ENSP00000510156.1:n.*748A>C
ENST00000686409.1:n.5193A>C (RAF1)
ENST00000686455.1:n.4505A>C (RAF1)
ENST00000686762.1:c.*343A>C (RAF1)	ENSP00000509767.1:n.*343A>C
ENST00000687257.1:n.4238A>C (RAF1)
ENST00000687326.1:c.*3076A>C (RAF1)	ENSP00000509665.1:n.*3076A>C
ENST00000687505.1:n.1902A>C (RAF1)
ENST00000687923.1:c.1673A>C (RAF1)	ENSP00000510255.1:p.Glu558Ala
ENST00000688269.1:n.2380A>C (RAF1)
ENST00000688444.1:n.3901A>C (RAF1)
ENST00000688543.1:c.1685A>C (RAF1)	ENSP00000509612.1:p.Glu562Ala
ENST00000688625.1:c.*3153A>C (RAF1)	ENSP00000509522.1:n.*3153A>C
ENST00000688803.1:n.3212A>C (RAF1)
ENST00000689097.1:c.*1461A>C (RAF1)	ENSP00000509756.1:n.*1461A>C
ENST00000689389.1:c.1607A>C (RAF1)	ENSP00000510213.1:p.Glu536Ala
ENST00000689418.1:c.*3679A>C (RAF1)	ENSP00000509467.1:n.*3679A>C
ENST00000689540.1:n.4152A>C (RAF1)
ENST00000689876.1:c.*333A>C (RAF1)	ENSP00000508535.1:n.*333A>C
ENST00000689914.1:c.*718A>C (RAF1)	ENSP00000509847.1:n.*718A>C
ENST00000690397.1:c.1673A>C (RAF1)	ENSP00000508730.1:p.Glu558Ala
ENST00000690460.1:c.1772A>C (RAF1)	ENSP00000509106.1:p.Glu591Ala
ENST00000690585.1:c.510A>C (RAF1)
ENST00000690625.1:n.2820A>C (RAF1)
ENST00000691396.1:c.*1656A>C (RAF1)	ENSP00000510712.1:n.*1656A>C
ENST00000691643.1:n.2837A>C (RAF1)
ENST00000691724.1:c.*741A>C (RAF1)	ENSP00000509255.1:n.*741A>C
ENST00000691779.1:c.*1362A>C (RAF1)	ENSP00000508592.1:n.*1362A>C
ENST00000691888.1:c.658A>C (RAF1)
ENST00000691899.1:c.1784A>C (RAF1)	ENSP00000508763.1:p.Glu595Ala
ENST00000692069.1:n.4708A>C (RAF1)
ENST00000692093.1:c.1685A>C (RAF1)	ENSP00000509669.1:p.Glu562Ala
ENST00000692311.1:n.2608A>C (RAF1)
ENST00000692558.1:n.4367A>C (RAF1)
ENST00000692773.1:c.*1521A>C (RAF1)	ENSP00000509055.1:n.*1521A>C
ENST00000692830.1:c.*1529A>C (RAF1)	ENSP00000509461.1:n.*1529A>C
ENST00000693312.1:c.1559A>C (RAF1)	ENSP00000508686.1:p.Glu520Ala
ENST00000693664.1:c.*235A>C (RAF1)	ENSP00000509614.1:n.*235A>C
ENST00000693705.1:c.*1163A>C (RAF1)	ENSP00000510697.1:n.*1163A>C
ENST00000251849.9:c.1784A>C (RAF1) MANE Select	ENSP00000251849.4:p.Glu595Ala
ENST00000442415.7:c.1844A>C (RAF1)	ENSP00000401888.2:p.Glu615Ala
ENST00000676541.1:c.*2613T>G (MKRN2)	ENSP00000503730.1:n.*2613T>G
ENST00000677142.1:c.*2613T>G (MKRN2)	ENSP00000504455.1:n.*2613T>G
ENST00000677816.1:c.*1168T>G (MKRN2)	ENSP00000502893.1:n.*1168T>G
ENST00000677941.1:n.2676T>G (MKRN2)
ENST00000251849.8:c.1784A>C (RAF1)	ENSP00000251849.4:p.Glu595Ala
ENST00000423275.5:c.*1461A>C (RAF1)	ENSP00000401088.1:n.*1461A>C
ENST00000432427.2:c.1421A>C (RAF1)	ENSP00000398591.2:p.Glu474Ala
ENST00000442415.6:c.1844A>C (RAF1)	ENSP00000401888.2:p.Glu615Ala
ENST00000471449.1:n.473A>C (RAF1)
NM_002880.3:c.1784A>C , LRG_413t1:c.1784A>C (RAF1)	NP_002871.1:p.Glu595Ala
XM_005265355.1:c.1784A>C (RAF1)	XP_005265412.1:p.Glu595Ala
XM_005265357.1:c.1685A>C (RAF1)	XP_005265414.1:p.Glu562Ala
XM_005265358.3:c.1541A>C (RAF1)	XP_005265415.1:p.Glu514Ala
XM_005265359.3:c.1442A>C (RAF1)	XP_005265416.1:p.Glu481Ala
XM_011533974.1:c.1784A>C (RAF1)	XP_011532276.1:p.Glu595Ala
XM_011533975.1:c.1541A>C (RAF1)	XP_011532277.1:p.Glu514Ala
NM_001354689.1:c.1844A>C (RAF1)	NP_001341618.1:p.Glu615Ala
NM_001354690.1:c.1784A>C (RAF1)	NP_001341619.1:p.Glu595Ala
NM_001354691.1:c.1541A>C (RAF1)	NP_001341620.1:p.Glu514Ala
NM_001354692.1:c.1541A>C (RAF1)	NP_001341621.1:p.Glu514Ala
NM_001354693.1:c.1685A>C (RAF1)	NP_001341622.1:p.Glu562Ala
NM_001354694.1:c.1601A>C (RAF1)	NP_001341623.1:p.Glu534Ala
NM_001354695.1:c.1442A>C (RAF1)	NP_001341624.1:p.Glu481Ala
NR_148940.1:n.2312A>C (RAF1)
NR_148941.1:n.2258A>C (RAF1)
NR_148942.1:n.2197A>C (RAF1)
XM_011533974.3:c.1784A>C (RAF1)	XP_011532276.1:p.Glu595Ala
XM_017006966.1:c.1685A>C (RAF1)	XP_016862455.1:p.Glu562Ala
NM_001354689.3:c.1844A>C (RAF1)	NP_001341618.1:p.Glu615Ala
NM_001354690.2:c.1784A>C (RAF1)	NP_001341619.1:p.Glu595Ala
NM_001354691.2:c.1541A>C (RAF1)	NP_001341620.1:p.Glu514Ala
NM_001354692.2:c.1541A>C (RAF1)	NP_001341621.1:p.Glu514Ala
NM_001354693.2:c.1685A>C (RAF1)	NP_001341622.1:p.Glu562Ala
NM_001354694.2:c.1601A>C (RAF1)	NP_001341623.1:p.Glu534Ala
NM_001354695.2:c.1442A>C (RAF1)	NP_001341624.1:p.Glu481Ala
NR_148940.2:n.2228A>C (RAF1)
NR_148941.2:n.2174A>C (RAF1)
NR_148942.2:n.2113A>C (RAF1)
NM_001354690.3:c.1784A>C (RAF1)	NP_001341619.1:p.Glu595Ala
NM_001354691.3:c.1541A>C (RAF1)	NP_001341620.1:p.Glu514Ala
NM_001354692.3:c.1541A>C (RAF1)	NP_001341621.1:p.Glu514Ala
NM_001354693.3:c.1685A>C (RAF1)	NP_001341622.1:p.Glu562Ala
NM_001354694.3:c.1601A>C (RAF1)	NP_001341623.1:p.Glu534Ala
NM_001354695.3:c.1442A>C (RAF1)	NP_001341624.1:p.Glu481Ala
NM_002880.4:c.1784A>C (RAF1) MANE Select	NP_002871.1:p.Glu595Ala
NR_148940.3:n.2228A>C (RAF1)
NR_148941.3:n.2174A>C (RAF1)
NR_148942.3:n.2113A>C (RAF1)