Canonical Allele Identifier: CA432522042

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 2696773
• ClinVar RCV Id: RCV003539519
• MyVariant Identifiers: chr3:g.12626436A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584937A>G , CM000665.2:g.12584937A>G	GRCh38
NC_000003.11:g.12626436A>G , CM000665.1:g.12626436A>G	GRCh37
NC_000003.10:g.12601436A>G	NCBI36
NG_007467.1:g.84243T>C , LRG_413:g.84243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1378T>C (RAF1)	ENSP00000401088.1:n.*1378T>C
ENST00000432427.3:c.1030T>C (RAF1)
ENST00000460610.2:n.6025T>C (RAF1)
ENST00000471449.2:n.523T>C (RAF1)
ENST00000475353.2:n.3993T>C (RAF1)
ENST00000684903.1:c.*1390T>C (RAF1)	ENSP00000508612.1:n.*1390T>C
ENST00000685348.1:c.*1424T>C (RAF1)	ENSP00000510285.1:n.*1424T>C
ENST00000685437.1:c.1614T>C (RAF1)	ENSP00000508794.1:p.Ser538=
ENST00000685653.1:c.1713T>C (RAF1)	ENSP00000509968.1:p.Ser571=
ENST00000685697.1:n.2448T>C (RAF1)
ENST00000685738.1:c.*677T>C (RAF1)	ENSP00000510156.1:n.*677T>C
ENST00000686409.1:n.5122T>C (RAF1)
ENST00000686455.1:n.4434T>C (RAF1)
ENST00000686762.1:c.*272T>C (RAF1)	ENSP00000509767.1:n.*272T>C
ENST00000687257.1:n.4167T>C (RAF1)
ENST00000687326.1:c.*3005T>C (RAF1)	ENSP00000509665.1:n.*3005T>C
ENST00000687505.1:n.1831T>C (RAF1)
ENST00000687923.1:c.1602T>C (RAF1)	ENSP00000510255.1:p.Ser534=
ENST00000688269.1:n.2309T>C (RAF1)
ENST00000688444.1:n.3830T>C (RAF1)
ENST00000688543.1:c.1614T>C (RAF1)	ENSP00000509612.1:p.Ser538=
ENST00000688625.1:c.*3082T>C (RAF1)	ENSP00000509522.1:n.*3082T>C
ENST00000688803.1:n.3141T>C (RAF1)
ENST00000688914.1:n.1126T>C (RAF1)
ENST00000689097.1:c.*1390T>C (RAF1)	ENSP00000509756.1:n.*1390T>C
ENST00000689389.1:c.1536T>C (RAF1)	ENSP00000510213.1:p.Ser512=
ENST00000689418.1:c.*3608T>C (RAF1)	ENSP00000509467.1:n.*3608T>C
ENST00000689540.1:n.4081T>C (RAF1)
ENST00000689876.1:c.*262T>C (RAF1)	ENSP00000508535.1:n.*262T>C
ENST00000689914.1:c.*647T>C (RAF1)	ENSP00000509847.1:n.*647T>C
ENST00000690397.1:c.1602T>C (RAF1)	ENSP00000508730.1:p.Ser534=
ENST00000690460.1:c.1701T>C (RAF1)	ENSP00000509106.1:p.Ser567=
ENST00000690585.1:c.439T>C (RAF1)
ENST00000690625.1:n.2749T>C (RAF1)
ENST00000691396.1:c.*1585T>C (RAF1)	ENSP00000510712.1:n.*1585T>C
ENST00000691643.1:n.2766T>C (RAF1)
ENST00000691724.1:c.*670T>C (RAF1)	ENSP00000509255.1:n.*670T>C
ENST00000691779.1:c.*1291T>C (RAF1)	ENSP00000508592.1:n.*1291T>C
ENST00000691888.1:c.587T>C (RAF1)
ENST00000691899.1:c.1713T>C (RAF1)	ENSP00000508763.1:p.Ser571=
ENST00000692069.1:n.4637T>C (RAF1)
ENST00000692093.1:c.1614T>C (RAF1)	ENSP00000509669.1:p.Ser538=
ENST00000692311.1:n.2537T>C (RAF1)
ENST00000692558.1:n.4296T>C (RAF1)
ENST00000692773.1:c.*1450T>C (RAF1)	ENSP00000509055.1:n.*1450T>C
ENST00000692830.1:c.*1458T>C (RAF1)	ENSP00000509461.1:n.*1458T>C
ENST00000693312.1:c.1488T>C (RAF1)	ENSP00000508686.1:p.Ser496=
ENST00000693664.1:c.*164T>C (RAF1)	ENSP00000509614.1:n.*164T>C
ENST00000693705.1:c.*1092T>C (RAF1)	ENSP00000510697.1:n.*1092T>C
ENST00000251849.9:c.1713T>C (RAF1) MANE Select	ENSP00000251849.4:p.Ser571=
ENST00000442415.7:c.1773T>C (RAF1)	ENSP00000401888.2:p.Ser591=
ENST00000676541.1:c.*2684A>G (MKRN2)	ENSP00000503730.1:n.*2684A>G
ENST00000677142.1:c.*2684A>G (MKRN2)	ENSP00000504455.1:n.*2684A>G
ENST00000677816.1:c.*1239A>G (MKRN2)	ENSP00000502893.1:n.*1239A>G
ENST00000677941.1:n.2747A>G (MKRN2)
ENST00000251849.8:c.1713T>C (RAF1)	ENSP00000251849.4:p.Ser571=
ENST00000423275.5:c.*1390T>C (RAF1)	ENSP00000401088.1:n.*1390T>C
ENST00000432427.2:c.1350T>C (RAF1)	ENSP00000398591.2:p.Ser450=
ENST00000442415.6:c.1773T>C (RAF1)	ENSP00000401888.2:p.Ser591=
ENST00000471449.1:n.402T>C (RAF1)
NM_002880.3:c.1713T>C , LRG_413t1:c.1713T>C (RAF1)	NP_002871.1:p.Ser571=
XM_005265355.1:c.1713T>C (RAF1)	XP_005265412.1:p.Ser571=
XM_005265357.1:c.1614T>C (RAF1)	XP_005265414.1:p.Ser538=
XM_005265358.3:c.1470T>C (RAF1)	XP_005265415.1:p.Ser490=
XM_005265359.3:c.1371T>C (RAF1)	XP_005265416.1:p.Ser457=
XM_011533974.1:c.1713T>C (RAF1)	XP_011532276.1:p.Ser571=
XM_011533975.1:c.1470T>C (RAF1)	XP_011532277.1:p.Ser490=
NM_001354689.1:c.1773T>C (RAF1)	NP_001341618.1:p.Ser591=
NM_001354690.1:c.1713T>C (RAF1)	NP_001341619.1:p.Ser571=
NM_001354691.1:c.1470T>C (RAF1)	NP_001341620.1:p.Ser490=
NM_001354692.1:c.1470T>C (RAF1)	NP_001341621.1:p.Ser490=
NM_001354693.1:c.1614T>C (RAF1)	NP_001341622.1:p.Ser538=
NM_001354694.1:c.1530T>C (RAF1)	NP_001341623.1:p.Ser510=
NM_001354695.1:c.1371T>C (RAF1)	NP_001341624.1:p.Ser457=
NR_148940.1:n.2241T>C (RAF1)
NR_148941.1:n.2187T>C (RAF1)
NR_148942.1:n.2126T>C (RAF1)
XM_011533974.3:c.1713T>C (RAF1)	XP_011532276.1:p.Ser571=
XM_017006966.1:c.1614T>C (RAF1)	XP_016862455.1:p.Ser538=
NM_001354689.3:c.1773T>C (RAF1)	NP_001341618.1:p.Ser591=
NM_001354690.2:c.1713T>C (RAF1)	NP_001341619.1:p.Ser571=
NM_001354691.2:c.1470T>C (RAF1)	NP_001341620.1:p.Ser490=
NM_001354692.2:c.1470T>C (RAF1)	NP_001341621.1:p.Ser490=
NM_001354693.2:c.1614T>C (RAF1)	NP_001341622.1:p.Ser538=
NM_001354694.2:c.1530T>C (RAF1)	NP_001341623.1:p.Ser510=
NM_001354695.2:c.1371T>C (RAF1)	NP_001341624.1:p.Ser457=
NR_148940.2:n.2157T>C (RAF1)
NR_148941.2:n.2103T>C (RAF1)
NR_148942.2:n.2042T>C (RAF1)
NM_001354690.3:c.1713T>C (RAF1)	NP_001341619.1:p.Ser571=
NM_001354691.3:c.1470T>C (RAF1)	NP_001341620.1:p.Ser490=
NM_001354692.3:c.1470T>C (RAF1)	NP_001341621.1:p.Ser490=
NM_001354693.3:c.1614T>C (RAF1)	NP_001341622.1:p.Ser538=
NM_001354694.3:c.1530T>C (RAF1)	NP_001341623.1:p.Ser510=
NM_001354695.3:c.1371T>C (RAF1)	NP_001341624.1:p.Ser457=
NM_002880.4:c.1713T>C (RAF1) MANE Select	NP_002871.1:p.Ser571=
NR_148940.3:n.2157T>C (RAF1)
NR_148941.3:n.2103T>C (RAF1)
NR_148942.3:n.2042T>C (RAF1)