Canonical Allele Identifier: CA351495739

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1474502
• ClinVar RCV Id: RCV001973426
• dbSNP Id: rs1228678241
• MyVariant Identifiers: chr3:g.12626074G>C (hg19) ; chr3:g.12584575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584575G>C , CM000665.2:g.12584575G>C	GRCh38
NC_000003.11:g.12626074G>C , CM000665.1:g.12626074G>C	GRCh37
NC_000003.10:g.12601074G>C	NCBI36
NG_007467.1:g.84605C>G , LRG_413:g.84605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1551C>G (RAF1)	ENSP00000401088.1:n.*1551C>G
ENST00000432427.3:c.1203C>G (RAF1)
ENST00000460610.2:n.6198C>G (RAF1)
ENST00000471449.2:n.696C>G (RAF1)
ENST00000475353.2:n.4166C>G (RAF1)
ENST00000684903.1:c.*1563C>G (RAF1)	ENSP00000508612.1:n.*1563C>G
ENST00000685348.1:c.*1597C>G (RAF1)	ENSP00000510285.1:n.*1597C>G
ENST00000685437.1:c.1787C>G (RAF1)	ENSP00000508794.1:p.Ala596Gly
ENST00000685653.1:c.1886C>G (RAF1)	ENSP00000509968.1:p.Ala629Gly
ENST00000685697.1:n.2621C>G (RAF1)
ENST00000685738.1:c.*850C>G (RAF1)	ENSP00000510156.1:n.*850C>G
ENST00000686409.1:n.5295C>G (RAF1)
ENST00000686455.1:n.4607C>G (RAF1)
ENST00000686762.1:c.*445C>G (RAF1)	ENSP00000509767.1:n.*445C>G
ENST00000687257.1:n.4340C>G (RAF1)
ENST00000687326.1:c.*3178C>G (RAF1)	ENSP00000509665.1:n.*3178C>G
ENST00000687505.1:n.2004C>G (RAF1)
ENST00000687923.1:c.1775C>G (RAF1)	ENSP00000510255.1:p.Ala592Gly
ENST00000688269.1:n.2482C>G (RAF1)
ENST00000688444.1:n.4003C>G (RAF1)
ENST00000688543.1:c.1787C>G (RAF1)	ENSP00000509612.1:p.Ala596Gly
ENST00000688625.1:c.*3255C>G (RAF1)	ENSP00000509522.1:n.*3255C>G
ENST00000688803.1:n.3314C>G (RAF1)
ENST00000689097.1:c.*1563C>G (RAF1)	ENSP00000509756.1:n.*1563C>G
ENST00000689389.1:c.1709C>G (RAF1)	ENSP00000510213.1:p.Ala570Gly
ENST00000689418.1:c.*3781C>G (RAF1)	ENSP00000509467.1:n.*3781C>G
ENST00000689540.1:n.4254C>G (RAF1)
ENST00000689876.1:c.*435C>G (RAF1)	ENSP00000508535.1:n.*435C>G
ENST00000689914.1:c.*820C>G (RAF1)	ENSP00000509847.1:n.*820C>G
ENST00000690397.1:c.1775C>G (RAF1)	ENSP00000508730.1:p.Ala592Gly
ENST00000690460.1:c.1874C>G (RAF1)	ENSP00000509106.1:p.Ala625Gly
ENST00000690585.1:c.612C>G (RAF1)
ENST00000690625.1:n.2922C>G (RAF1)
ENST00000691396.1:c.*1758C>G (RAF1)	ENSP00000510712.1:n.*1758C>G
ENST00000691643.1:n.2939C>G (RAF1)
ENST00000691724.1:c.*843C>G (RAF1)	ENSP00000509255.1:n.*843C>G
ENST00000691779.1:c.*1464C>G (RAF1)	ENSP00000508592.1:n.*1464C>G
ENST00000691888.1:c.760C>G (RAF1)
ENST00000691899.1:c.1886C>G (RAF1)	ENSP00000508763.1:p.Ala629Gly
ENST00000692069.1:n.4810C>G (RAF1)
ENST00000692093.1:c.1787C>G (RAF1)	ENSP00000509669.1:p.Ala596Gly
ENST00000692311.1:n.2710C>G (RAF1)
ENST00000692558.1:n.4469C>G (RAF1)
ENST00000692773.1:c.*1623C>G (RAF1)	ENSP00000509055.1:n.*1623C>G
ENST00000692830.1:c.*1631C>G (RAF1)	ENSP00000509461.1:n.*1631C>G
ENST00000693312.1:c.1661C>G (RAF1)	ENSP00000508686.1:p.Ala554Gly
ENST00000693664.1:c.*337C>G (RAF1)	ENSP00000509614.1:n.*337C>G
ENST00000693705.1:c.*1265C>G (RAF1)	ENSP00000510697.1:n.*1265C>G
ENST00000251849.9:c.1886C>G (RAF1) MANE Select	ENSP00000251849.4:p.Ala629Gly
ENST00000442415.7:c.1946C>G (RAF1)	ENSP00000401888.2:p.Ala649Gly
ENST00000676541.1:c.*2322G>C (MKRN2)	ENSP00000503730.1:n.*2322G>C
ENST00000677142.1:c.*2322G>C (MKRN2)	ENSP00000504455.1:n.*2322G>C
ENST00000677816.1:c.*877G>C (MKRN2)	ENSP00000502893.1:n.*877G>C
ENST00000677941.1:n.2385G>C (MKRN2)
ENST00000251849.8:c.1886C>G (RAF1)	ENSP00000251849.4:p.Ala629Gly
ENST00000423275.5:c.*1563C>G (RAF1)	ENSP00000401088.1:n.*1563C>G
ENST00000432427.2:c.1523C>G (RAF1)	ENSP00000398591.2:p.Ala508Gly
ENST00000442415.6:c.1946C>G (RAF1)	ENSP00000401888.2:p.Ala649Gly
ENST00000471449.1:n.575C>G (RAF1)
NM_002880.3:c.1886C>G , LRG_413t1:c.1886C>G (RAF1)	NP_002871.1:p.Ala629Gly
XM_005265355.1:c.1886C>G (RAF1)	XP_005265412.1:p.Ala629Gly
XM_005265357.1:c.1787C>G (RAF1)	XP_005265414.1:p.Ala596Gly
XM_005265358.3:c.1643C>G (RAF1)	XP_005265415.1:p.Ala548Gly
XM_005265359.3:c.1544C>G (RAF1)	XP_005265416.1:p.Ala515Gly
XM_011533974.1:c.1886C>G (RAF1)	XP_011532276.1:p.Ala629Gly
XM_011533975.1:c.1643C>G (RAF1)	XP_011532277.1:p.Ala548Gly
NM_001354689.1:c.1946C>G (RAF1)	NP_001341618.1:p.Ala649Gly
NM_001354690.1:c.1886C>G (RAF1)	NP_001341619.1:p.Ala629Gly
NM_001354691.1:c.1643C>G (RAF1)	NP_001341620.1:p.Ala548Gly
NM_001354692.1:c.1643C>G (RAF1)	NP_001341621.1:p.Ala548Gly
NM_001354693.1:c.1787C>G (RAF1)	NP_001341622.1:p.Ala596Gly
NM_001354694.1:c.1703C>G (RAF1)	NP_001341623.1:p.Ala568Gly
NM_001354695.1:c.1544C>G (RAF1)	NP_001341624.1:p.Ala515Gly
NR_148940.1:n.2414C>G (RAF1)
NR_148941.1:n.2360C>G (RAF1)
NR_148942.1:n.2299C>G (RAF1)
XM_011533974.3:c.1886C>G (RAF1)	XP_011532276.1:p.Ala629Gly
XM_017006966.1:c.1787C>G (RAF1)	XP_016862455.1:p.Ala596Gly
NM_001354689.3:c.1946C>G (RAF1)	NP_001341618.1:p.Ala649Gly
NM_001354690.2:c.1886C>G (RAF1)	NP_001341619.1:p.Ala629Gly
NM_001354691.2:c.1643C>G (RAF1)	NP_001341620.1:p.Ala548Gly
NM_001354692.2:c.1643C>G (RAF1)	NP_001341621.1:p.Ala548Gly
NM_001354693.2:c.1787C>G (RAF1)	NP_001341622.1:p.Ala596Gly
NM_001354694.2:c.1703C>G (RAF1)	NP_001341623.1:p.Ala568Gly
NM_001354695.2:c.1544C>G (RAF1)	NP_001341624.1:p.Ala515Gly
NR_148940.2:n.2330C>G (RAF1)
NR_148941.2:n.2276C>G (RAF1)
NR_148942.2:n.2215C>G (RAF1)
NM_001354690.3:c.1886C>G (RAF1)	NP_001341619.1:p.Ala629Gly
NM_001354691.3:c.1643C>G (RAF1)	NP_001341620.1:p.Ala548Gly
NM_001354692.3:c.1643C>G (RAF1)	NP_001341621.1:p.Ala548Gly
NM_001354693.3:c.1787C>G (RAF1)	NP_001341622.1:p.Ala596Gly
NM_001354694.3:c.1703C>G (RAF1)	NP_001341623.1:p.Ala568Gly
NM_001354695.3:c.1544C>G (RAF1)	NP_001341624.1:p.Ala515Gly
NM_002880.4:c.1886C>G (RAF1) MANE Select	NP_002871.1:p.Ala629Gly
NR_148940.3:n.2330C>G (RAF1)
NR_148941.3:n.2276C>G (RAF1)
NR_148942.3:n.2215C>G (RAF1)