Canonical Allele Identifier: CA351496593

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584881-T-C
• MyVariant Identifiers: chr3:g.12626380T>C (hg19) ; chr3:g.12584881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584881T>C , CM000665.2:g.12584881T>C	GRCh38
NC_000003.11:g.12626380T>C , CM000665.1:g.12626380T>C	GRCh37
NC_000003.10:g.12601380T>C	NCBI36
NG_007467.1:g.84299A>G , LRG_413:g.84299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1434A>G (RAF1)	ENSP00000401088.1:n.*1434A>G
ENST00000432427.3:c.1086A>G (RAF1)
ENST00000460610.2:n.6081A>G (RAF1)
ENST00000471449.2:n.579A>G (RAF1)
ENST00000475353.2:n.4049A>G (RAF1)
ENST00000684903.1:c.*1446A>G (RAF1)	ENSP00000508612.1:n.*1446A>G
ENST00000685348.1:c.*1480A>G (RAF1)	ENSP00000510285.1:n.*1480A>G
ENST00000685437.1:c.1670A>G (RAF1)	ENSP00000508794.1:p.Lys557Arg
ENST00000685653.1:c.1769A>G (RAF1)	ENSP00000509968.1:p.Lys590Arg
ENST00000685697.1:n.2504A>G (RAF1)
ENST00000685738.1:c.*733A>G (RAF1)	ENSP00000510156.1:n.*733A>G
ENST00000686409.1:n.5178A>G (RAF1)
ENST00000686455.1:n.4490A>G (RAF1)
ENST00000686762.1:c.*328A>G (RAF1)	ENSP00000509767.1:n.*328A>G
ENST00000687257.1:n.4223A>G (RAF1)
ENST00000687326.1:c.*3061A>G (RAF1)	ENSP00000509665.1:n.*3061A>G
ENST00000687505.1:n.1887A>G (RAF1)
ENST00000687923.1:c.1658A>G (RAF1)	ENSP00000510255.1:p.Lys553Arg
ENST00000688269.1:n.2365A>G (RAF1)
ENST00000688444.1:n.3886A>G (RAF1)
ENST00000688543.1:c.1670A>G (RAF1)	ENSP00000509612.1:p.Lys557Arg
ENST00000688625.1:c.*3138A>G (RAF1)	ENSP00000509522.1:n.*3138A>G
ENST00000688803.1:n.3197A>G (RAF1)
ENST00000689097.1:c.*1446A>G (RAF1)	ENSP00000509756.1:n.*1446A>G
ENST00000689389.1:c.1592A>G (RAF1)	ENSP00000510213.1:p.Lys531Arg
ENST00000689418.1:c.*3664A>G (RAF1)	ENSP00000509467.1:n.*3664A>G
ENST00000689540.1:n.4137A>G (RAF1)
ENST00000689876.1:c.*318A>G (RAF1)	ENSP00000508535.1:n.*318A>G
ENST00000689914.1:c.*703A>G (RAF1)	ENSP00000509847.1:n.*703A>G
ENST00000690397.1:c.1658A>G (RAF1)	ENSP00000508730.1:p.Lys553Arg
ENST00000690460.1:c.1757A>G (RAF1)	ENSP00000509106.1:p.Lys586Arg
ENST00000690585.1:c.495A>G (RAF1)
ENST00000690625.1:n.2805A>G (RAF1)
ENST00000691396.1:c.*1641A>G (RAF1)	ENSP00000510712.1:n.*1641A>G
ENST00000691643.1:n.2822A>G (RAF1)
ENST00000691724.1:c.*726A>G (RAF1)	ENSP00000509255.1:n.*726A>G
ENST00000691779.1:c.*1347A>G (RAF1)	ENSP00000508592.1:n.*1347A>G
ENST00000691888.1:c.643A>G (RAF1)
ENST00000691899.1:c.1769A>G (RAF1)	ENSP00000508763.1:p.Lys590Arg
ENST00000692069.1:n.4693A>G (RAF1)
ENST00000692093.1:c.1670A>G (RAF1)	ENSP00000509669.1:p.Lys557Arg
ENST00000692311.1:n.2593A>G (RAF1)
ENST00000692558.1:n.4352A>G (RAF1)
ENST00000692773.1:c.*1506A>G (RAF1)	ENSP00000509055.1:n.*1506A>G
ENST00000692830.1:c.*1514A>G (RAF1)	ENSP00000509461.1:n.*1514A>G
ENST00000693312.1:c.1544A>G (RAF1)	ENSP00000508686.1:p.Lys515Arg
ENST00000693664.1:c.*220A>G (RAF1)	ENSP00000509614.1:n.*220A>G
ENST00000693705.1:c.*1148A>G (RAF1)	ENSP00000510697.1:n.*1148A>G
ENST00000251849.9:c.1769A>G (RAF1) MANE Select	ENSP00000251849.4:p.Lys590Arg
ENST00000442415.7:c.1829A>G (RAF1)	ENSP00000401888.2:p.Lys610Arg
ENST00000676541.1:c.*2628T>C (MKRN2)	ENSP00000503730.1:n.*2628T>C
ENST00000677142.1:c.*2628T>C (MKRN2)	ENSP00000504455.1:n.*2628T>C
ENST00000677816.1:c.*1183T>C (MKRN2)	ENSP00000502893.1:n.*1183T>C
ENST00000677941.1:n.2691T>C (MKRN2)
ENST00000251849.8:c.1769A>G (RAF1)	ENSP00000251849.4:p.Lys590Arg
ENST00000423275.5:c.*1446A>G (RAF1)	ENSP00000401088.1:n.*1446A>G
ENST00000432427.2:c.1406A>G (RAF1)	ENSP00000398591.2:p.Lys469Arg
ENST00000442415.6:c.1829A>G (RAF1)	ENSP00000401888.2:p.Lys610Arg
ENST00000471449.1:n.458A>G (RAF1)
NM_002880.3:c.1769A>G , LRG_413t1:c.1769A>G (RAF1)	NP_002871.1:p.Lys590Arg
XM_005265355.1:c.1769A>G (RAF1)	XP_005265412.1:p.Lys590Arg
XM_005265357.1:c.1670A>G (RAF1)	XP_005265414.1:p.Lys557Arg
XM_005265358.3:c.1526A>G (RAF1)	XP_005265415.1:p.Lys509Arg
XM_005265359.3:c.1427A>G (RAF1)	XP_005265416.1:p.Lys476Arg
XM_011533974.1:c.1769A>G (RAF1)	XP_011532276.1:p.Lys590Arg
XM_011533975.1:c.1526A>G (RAF1)	XP_011532277.1:p.Lys509Arg
NM_001354689.1:c.1829A>G (RAF1)	NP_001341618.1:p.Lys610Arg
NM_001354690.1:c.1769A>G (RAF1)	NP_001341619.1:p.Lys590Arg
NM_001354691.1:c.1526A>G (RAF1)	NP_001341620.1:p.Lys509Arg
NM_001354692.1:c.1526A>G (RAF1)	NP_001341621.1:p.Lys509Arg
NM_001354693.1:c.1670A>G (RAF1)	NP_001341622.1:p.Lys557Arg
NM_001354694.1:c.1586A>G (RAF1)	NP_001341623.1:p.Lys529Arg
NM_001354695.1:c.1427A>G (RAF1)	NP_001341624.1:p.Lys476Arg
NR_148940.1:n.2297A>G (RAF1)
NR_148941.1:n.2243A>G (RAF1)
NR_148942.1:n.2182A>G (RAF1)
XM_011533974.3:c.1769A>G (RAF1)	XP_011532276.1:p.Lys590Arg
XM_017006966.1:c.1670A>G (RAF1)	XP_016862455.1:p.Lys557Arg
NM_001354689.3:c.1829A>G (RAF1)	NP_001341618.1:p.Lys610Arg
NM_001354690.2:c.1769A>G (RAF1)	NP_001341619.1:p.Lys590Arg
NM_001354691.2:c.1526A>G (RAF1)	NP_001341620.1:p.Lys509Arg
NM_001354692.2:c.1526A>G (RAF1)	NP_001341621.1:p.Lys509Arg
NM_001354693.2:c.1670A>G (RAF1)	NP_001341622.1:p.Lys557Arg
NM_001354694.2:c.1586A>G (RAF1)	NP_001341623.1:p.Lys529Arg
NM_001354695.2:c.1427A>G (RAF1)	NP_001341624.1:p.Lys476Arg
NR_148940.2:n.2213A>G (RAF1)
NR_148941.2:n.2159A>G (RAF1)
NR_148942.2:n.2098A>G (RAF1)
NM_001354690.3:c.1769A>G (RAF1)	NP_001341619.1:p.Lys590Arg
NM_001354691.3:c.1526A>G (RAF1)	NP_001341620.1:p.Lys509Arg
NM_001354692.3:c.1526A>G (RAF1)	NP_001341621.1:p.Lys509Arg
NM_001354693.3:c.1670A>G (RAF1)	NP_001341622.1:p.Lys557Arg
NM_001354694.3:c.1586A>G (RAF1)	NP_001341623.1:p.Lys529Arg
NM_001354695.3:c.1427A>G (RAF1)	NP_001341624.1:p.Lys476Arg
NM_002880.4:c.1769A>G (RAF1) MANE Select	NP_002871.1:p.Lys590Arg
NR_148940.3:n.2213A>G (RAF1)
NR_148941.3:n.2159A>G (RAF1)
NR_148942.3:n.2098A>G (RAF1)