Canonical Allele Identifier: CA351495353

Gene: RAF1 MKRN2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584527A>C , CM000665.2:g.12584527A>C	GRCh38
NC_000003.11:g.12626026A>C , CM000665.1:g.12626026A>C	GRCh37
NC_000003.10:g.12601026A>C	NCBI36
NG_007467.1:g.84653T>G , LRG_413:g.84653T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1599T>G (RAF1)	ENSP00000401088.1:n.*1599T>G
ENST00000432427.3:c.1251T>G (RAF1)
ENST00000460610.2:n.6246T>G (RAF1)
ENST00000471449.2:n.744T>G (RAF1)
ENST00000475353.2:n.4214T>G (RAF1)
ENST00000684903.1:c.*1611T>G (RAF1)	ENSP00000508612.1:n.*1611T>G
ENST00000685348.1:c.*1645T>G (RAF1)	ENSP00000510285.1:n.*1645T>G
ENST00000685437.1:c.1835T>G (RAF1)	ENSP00000508794.1:p.Leu612Arg
ENST00000685653.1:c.1934T>G (RAF1)	ENSP00000509968.1:p.Leu645Arg
ENST00000685697.1:n.2669T>G (RAF1)
ENST00000685738.1:c.*898T>G (RAF1)	ENSP00000510156.1:n.*898T>G
ENST00000686409.1:n.5343T>G (RAF1)
ENST00000686455.1:n.4655T>G (RAF1)
ENST00000686762.1:c.*493T>G (RAF1)	ENSP00000509767.1:n.*493T>G
ENST00000687257.1:n.4388T>G (RAF1)
ENST00000687326.1:c.*3226T>G (RAF1)	ENSP00000509665.1:n.*3226T>G
ENST00000687505.1:n.2052T>G (RAF1)
ENST00000687923.1:c.1823T>G (RAF1)	ENSP00000510255.1:p.Leu608Arg
ENST00000688269.1:n.2530T>G (RAF1)
ENST00000688444.1:n.4051T>G (RAF1)
ENST00000688543.1:c.1835T>G (RAF1)	ENSP00000509612.1:p.Leu612Arg
ENST00000688625.1:c.*3303T>G (RAF1)	ENSP00000509522.1:n.*3303T>G
ENST00000688803.1:n.3362T>G (RAF1)
ENST00000689097.1:c.*1611T>G (RAF1)	ENSP00000509756.1:n.*1611T>G
ENST00000689389.1:c.1757T>G (RAF1)	ENSP00000510213.1:p.Leu586Arg
ENST00000689418.1:c.*3829T>G (RAF1)	ENSP00000509467.1:n.*3829T>G
ENST00000689540.1:n.4302T>G (RAF1)
ENST00000689876.1:c.*483T>G (RAF1)	ENSP00000508535.1:n.*483T>G
ENST00000689914.1:c.*868T>G (RAF1)	ENSP00000509847.1:n.*868T>G
ENST00000690397.1:c.1823T>G (RAF1)	ENSP00000508730.1:p.Leu608Arg
ENST00000690460.1:c.1922T>G (RAF1)	ENSP00000509106.1:p.Leu641Arg
ENST00000690585.1:c.660T>G (RAF1)
ENST00000690625.1:n.2970T>G (RAF1)
ENST00000691396.1:c.*1806T>G (RAF1)	ENSP00000510712.1:n.*1806T>G
ENST00000691643.1:n.2987T>G (RAF1)
ENST00000691724.1:c.*891T>G (RAF1)	ENSP00000509255.1:n.*891T>G
ENST00000691779.1:c.*1512T>G (RAF1)	ENSP00000508592.1:n.*1512T>G
ENST00000691888.1:c.808T>G (RAF1)
ENST00000691899.1:c.1934T>G (RAF1)	ENSP00000508763.1:p.Leu645Arg
ENST00000692069.1:n.4858T>G (RAF1)
ENST00000692093.1:c.1835T>G (RAF1)	ENSP00000509669.1:p.Leu612Arg
ENST00000692311.1:n.2758T>G (RAF1)
ENST00000692558.1:n.4517T>G (RAF1)
ENST00000692773.1:c.*1671T>G (RAF1)	ENSP00000509055.1:n.*1671T>G
ENST00000692830.1:c.*1679T>G (RAF1)	ENSP00000509461.1:n.*1679T>G
ENST00000693312.1:c.1709T>G (RAF1)	ENSP00000508686.1:p.Leu570Arg
ENST00000693664.1:c.*385T>G (RAF1)	ENSP00000509614.1:n.*385T>G
ENST00000693705.1:c.*1313T>G (RAF1)	ENSP00000510697.1:n.*1313T>G
ENST00000251849.9:c.1934T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu645Arg
ENST00000442415.7:c.1994T>G (RAF1)	ENSP00000401888.2:p.Leu665Arg
ENST00000676541.1:c.*2274A>C (MKRN2)	ENSP00000503730.1:n.*2274A>C
ENST00000677142.1:c.*2274A>C (MKRN2)	ENSP00000504455.1:n.*2274A>C
ENST00000677816.1:c.*829A>C (MKRN2)	ENSP00000502893.1:n.*829A>C
ENST00000677941.1:n.2337A>C (MKRN2)
ENST00000251849.8:c.1934T>G (RAF1)	ENSP00000251849.4:p.Leu645Arg
ENST00000423275.5:c.*1611T>G (RAF1)	ENSP00000401088.1:n.*1611T>G
ENST00000432427.2:c.1571T>G (RAF1)	ENSP00000398591.2:p.Leu524Arg
ENST00000442415.6:c.1994T>G (RAF1)	ENSP00000401888.2:p.Leu665Arg
ENST00000471449.1:n.623T>G (RAF1)
NM_002880.3:c.1934T>G , LRG_413t1:c.1934T>G (RAF1)	NP_002871.1:p.Leu645Arg
XM_005265355.1:c.1934T>G (RAF1)	XP_005265412.1:p.Leu645Arg
XM_005265357.1:c.1835T>G (RAF1)	XP_005265414.1:p.Leu612Arg
XM_005265358.3:c.1691T>G (RAF1)	XP_005265415.1:p.Leu564Arg
XM_005265359.3:c.1592T>G (RAF1)	XP_005265416.1:p.Leu531Arg
XM_011533974.1:c.1934T>G (RAF1)	XP_011532276.1:p.Leu645Arg
XM_011533975.1:c.1691T>G (RAF1)	XP_011532277.1:p.Leu564Arg
NM_001354689.1:c.1994T>G (RAF1)	NP_001341618.1:p.Leu665Arg
NM_001354690.1:c.1934T>G (RAF1)	NP_001341619.1:p.Leu645Arg
NM_001354691.1:c.1691T>G (RAF1)	NP_001341620.1:p.Leu564Arg
NM_001354692.1:c.1691T>G (RAF1)	NP_001341621.1:p.Leu564Arg
NM_001354693.1:c.1835T>G (RAF1)	NP_001341622.1:p.Leu612Arg
NM_001354694.1:c.1751T>G (RAF1)	NP_001341623.1:p.Leu584Arg
NM_001354695.1:c.1592T>G (RAF1)	NP_001341624.1:p.Leu531Arg
NR_148940.1:n.2462T>G (RAF1)
NR_148941.1:n.2408T>G (RAF1)
NR_148942.1:n.2347T>G (RAF1)
XM_011533974.3:c.1934T>G (RAF1)	XP_011532276.1:p.Leu645Arg
XM_017006966.1:c.1835T>G (RAF1)	XP_016862455.1:p.Leu612Arg
NM_001354689.3:c.1994T>G (RAF1)	NP_001341618.1:p.Leu665Arg
NM_001354690.2:c.1934T>G (RAF1)	NP_001341619.1:p.Leu645Arg
NM_001354691.2:c.1691T>G (RAF1)	NP_001341620.1:p.Leu564Arg
NM_001354692.2:c.1691T>G (RAF1)	NP_001341621.1:p.Leu564Arg
NM_001354693.2:c.1835T>G (RAF1)	NP_001341622.1:p.Leu612Arg
NM_001354694.2:c.1751T>G (RAF1)	NP_001341623.1:p.Leu584Arg
NM_001354695.2:c.1592T>G (RAF1)	NP_001341624.1:p.Leu531Arg
NR_148940.2:n.2378T>G (RAF1)
NR_148941.2:n.2324T>G (RAF1)
NR_148942.2:n.2263T>G (RAF1)
NM_001354690.3:c.1934T>G (RAF1)	NP_001341619.1:p.Leu645Arg
NM_001354691.3:c.1691T>G (RAF1)	NP_001341620.1:p.Leu564Arg
NM_001354692.3:c.1691T>G (RAF1)	NP_001341621.1:p.Leu564Arg
NM_001354693.3:c.1835T>G (RAF1)	NP_001341622.1:p.Leu612Arg
NM_001354694.3:c.1751T>G (RAF1)	NP_001341623.1:p.Leu584Arg
NM_001354695.3:c.1592T>G (RAF1)	NP_001341624.1:p.Leu531Arg
NM_002880.4:c.1934T>G (RAF1) MANE Select	NP_002871.1:p.Leu645Arg
NR_148940.3:n.2378T>G (RAF1)
NR_148941.3:n.2324T>G (RAF1)
NR_148942.3:n.2263T>G (RAF1)