Canonical Allele Identifier: CA351496901

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125319886
• gnomAD v4: 3-12584950-G-C
• MyVariant Identifiers: chr3:g.12626449G>C (hg19) ; chr3:g.12584950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584950G>C , CM000665.2:g.12584950G>C	GRCh38
NC_000003.11:g.12626449G>C , CM000665.1:g.12626449G>C	GRCh37
NC_000003.10:g.12601449G>C	NCBI36
NG_007467.1:g.84230C>G , LRG_413:g.84230C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1365C>G (RAF1)	ENSP00000401088.1:n.*1365C>G
ENST00000432427.3:c.1017C>G (RAF1)
ENST00000460610.2:n.6012C>G (RAF1)
ENST00000471449.2:n.510C>G (RAF1)
ENST00000475353.2:n.3980C>G (RAF1)
ENST00000684903.1:c.*1377C>G (RAF1)	ENSP00000508612.1:n.*1377C>G
ENST00000685348.1:c.*1411C>G (RAF1)	ENSP00000510285.1:n.*1411C>G
ENST00000685437.1:c.1601C>G (RAF1)	ENSP00000508794.1:p.Ser534Cys
ENST00000685653.1:c.1700C>G (RAF1)	ENSP00000509968.1:p.Ser567Cys
ENST00000685697.1:n.2435C>G (RAF1)
ENST00000685738.1:c.*664C>G (RAF1)	ENSP00000510156.1:n.*664C>G
ENST00000686409.1:n.5109C>G (RAF1)
ENST00000686455.1:n.4421C>G (RAF1)
ENST00000686762.1:c.*259C>G (RAF1)	ENSP00000509767.1:n.*259C>G
ENST00000687257.1:n.4154C>G (RAF1)
ENST00000687326.1:c.*2992C>G (RAF1)	ENSP00000509665.1:n.*2992C>G
ENST00000687505.1:n.1818C>G (RAF1)
ENST00000687923.1:c.1589C>G (RAF1)	ENSP00000510255.1:p.Ser530Cys
ENST00000688269.1:n.2296C>G (RAF1)
ENST00000688444.1:n.3817C>G (RAF1)
ENST00000688543.1:c.1601C>G (RAF1)	ENSP00000509612.1:p.Ser534Cys
ENST00000688625.1:c.*3069C>G (RAF1)	ENSP00000509522.1:n.*3069C>G
ENST00000688803.1:n.3128C>G (RAF1)
ENST00000688914.1:n.1113C>G (RAF1)
ENST00000689097.1:c.*1377C>G (RAF1)	ENSP00000509756.1:n.*1377C>G
ENST00000689389.1:c.1523C>G (RAF1)	ENSP00000510213.1:p.Ser508Cys
ENST00000689418.1:c.*3595C>G (RAF1)	ENSP00000509467.1:n.*3595C>G
ENST00000689540.1:n.4068C>G (RAF1)
ENST00000689876.1:c.*249C>G (RAF1)	ENSP00000508535.1:n.*249C>G
ENST00000689914.1:c.*634C>G (RAF1)	ENSP00000509847.1:n.*634C>G
ENST00000690397.1:c.1589C>G (RAF1)	ENSP00000508730.1:p.Ser530Cys
ENST00000690460.1:c.1688C>G (RAF1)	ENSP00000509106.1:p.Ser563Cys
ENST00000690585.1:c.426C>G (RAF1)
ENST00000690625.1:n.2736C>G (RAF1)
ENST00000691396.1:c.*1572C>G (RAF1)	ENSP00000510712.1:n.*1572C>G
ENST00000691643.1:n.2753C>G (RAF1)
ENST00000691724.1:c.*657C>G (RAF1)	ENSP00000509255.1:n.*657C>G
ENST00000691779.1:c.*1278C>G (RAF1)	ENSP00000508592.1:n.*1278C>G
ENST00000691888.1:c.574C>G (RAF1)
ENST00000691899.1:c.1700C>G (RAF1)	ENSP00000508763.1:p.Ser567Cys
ENST00000692069.1:n.4624C>G (RAF1)
ENST00000692093.1:c.1601C>G (RAF1)	ENSP00000509669.1:p.Ser534Cys
ENST00000692311.1:n.2524C>G (RAF1)
ENST00000692558.1:n.4283C>G (RAF1)
ENST00000692773.1:c.*1437C>G (RAF1)	ENSP00000509055.1:n.*1437C>G
ENST00000692830.1:c.*1445C>G (RAF1)	ENSP00000509461.1:n.*1445C>G
ENST00000693312.1:c.1475C>G (RAF1)	ENSP00000508686.1:p.Ser492Cys
ENST00000693664.1:c.*151C>G (RAF1)	ENSP00000509614.1:n.*151C>G
ENST00000693705.1:c.*1079C>G (RAF1)	ENSP00000510697.1:n.*1079C>G
ENST00000251849.9:c.1700C>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser567Cys
ENST00000442415.7:c.1760C>G (RAF1)	ENSP00000401888.2:p.Ser587Cys
ENST00000676541.1:c.*2697G>C (MKRN2)	ENSP00000503730.1:n.*2697G>C
ENST00000677142.1:c.*2697G>C (MKRN2)	ENSP00000504455.1:n.*2697G>C
ENST00000677816.1:c.*1252G>C (MKRN2)	ENSP00000502893.1:n.*1252G>C
ENST00000677941.1:n.2760G>C (MKRN2)
ENST00000251849.8:c.1700C>G (RAF1)	ENSP00000251849.4:p.Ser567Cys
ENST00000423275.5:c.*1377C>G (RAF1)	ENSP00000401088.1:n.*1377C>G
ENST00000432427.2:c.1337C>G (RAF1)	ENSP00000398591.2:p.Ser446Cys
ENST00000442415.6:c.1760C>G (RAF1)	ENSP00000401888.2:p.Ser587Cys
ENST00000471449.1:n.389C>G (RAF1)
NM_002880.3:c.1700C>G , LRG_413t1:c.1700C>G (RAF1)	NP_002871.1:p.Ser567Cys
XM_005265355.1:c.1700C>G (RAF1)	XP_005265412.1:p.Ser567Cys
XM_005265357.1:c.1601C>G (RAF1)	XP_005265414.1:p.Ser534Cys
XM_005265358.3:c.1457C>G (RAF1)	XP_005265415.1:p.Ser486Cys
XM_005265359.3:c.1358C>G (RAF1)	XP_005265416.1:p.Ser453Cys
XM_011533974.1:c.1700C>G (RAF1)	XP_011532276.1:p.Ser567Cys
XM_011533975.1:c.1457C>G (RAF1)	XP_011532277.1:p.Ser486Cys
NM_001354689.1:c.1760C>G (RAF1)	NP_001341618.1:p.Ser587Cys
NM_001354690.1:c.1700C>G (RAF1)	NP_001341619.1:p.Ser567Cys
NM_001354691.1:c.1457C>G (RAF1)	NP_001341620.1:p.Ser486Cys
NM_001354692.1:c.1457C>G (RAF1)	NP_001341621.1:p.Ser486Cys
NM_001354693.1:c.1601C>G (RAF1)	NP_001341622.1:p.Ser534Cys
NM_001354694.1:c.1517C>G (RAF1)	NP_001341623.1:p.Ser506Cys
NM_001354695.1:c.1358C>G (RAF1)	NP_001341624.1:p.Ser453Cys
NR_148940.1:n.2228C>G (RAF1)
NR_148941.1:n.2174C>G (RAF1)
NR_148942.1:n.2113C>G (RAF1)
XM_011533974.3:c.1700C>G (RAF1)	XP_011532276.1:p.Ser567Cys
XM_017006966.1:c.1601C>G (RAF1)	XP_016862455.1:p.Ser534Cys
NM_001354689.3:c.1760C>G (RAF1)	NP_001341618.1:p.Ser587Cys
NM_001354690.2:c.1700C>G (RAF1)	NP_001341619.1:p.Ser567Cys
NM_001354691.2:c.1457C>G (RAF1)	NP_001341620.1:p.Ser486Cys
NM_001354692.2:c.1457C>G (RAF1)	NP_001341621.1:p.Ser486Cys
NM_001354693.2:c.1601C>G (RAF1)	NP_001341622.1:p.Ser534Cys
NM_001354694.2:c.1517C>G (RAF1)	NP_001341623.1:p.Ser506Cys
NM_001354695.2:c.1358C>G (RAF1)	NP_001341624.1:p.Ser453Cys
NR_148940.2:n.2144C>G (RAF1)
NR_148941.2:n.2090C>G (RAF1)
NR_148942.2:n.2029C>G (RAF1)
NM_001354690.3:c.1700C>G (RAF1)	NP_001341619.1:p.Ser567Cys
NM_001354691.3:c.1457C>G (RAF1)	NP_001341620.1:p.Ser486Cys
NM_001354692.3:c.1457C>G (RAF1)	NP_001341621.1:p.Ser486Cys
NM_001354693.3:c.1601C>G (RAF1)	NP_001341622.1:p.Ser534Cys
NM_001354694.3:c.1517C>G (RAF1)	NP_001341623.1:p.Ser506Cys
NM_001354695.3:c.1358C>G (RAF1)	NP_001341624.1:p.Ser453Cys
NM_002880.4:c.1700C>G (RAF1) MANE Select	NP_002871.1:p.Ser567Cys
NR_148940.3:n.2144C>G (RAF1)
NR_148941.3:n.2090C>G (RAF1)
NR_148942.3:n.2029C>G (RAF1)