Canonical Allele Identifier: CA351496143

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125317110
• MyVariant Identifiers: chr3:g.12626132G>C (hg19) ; chr3:g.12584633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584633G>C , CM000665.2:g.12584633G>C	GRCh38
NC_000003.11:g.12626132G>C , CM000665.1:g.12626132G>C	GRCh37
NC_000003.10:g.12601132G>C	NCBI36
NG_007467.1:g.84547C>G , LRG_413:g.84547C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1493C>G (RAF1)	ENSP00000401088.1:n.*1493C>G
ENST00000432427.3:c.1145C>G (RAF1)
ENST00000460610.2:n.6140C>G (RAF1)
ENST00000471449.2:n.638C>G (RAF1)
ENST00000475353.2:n.4108C>G (RAF1)
ENST00000684903.1:c.*1505C>G (RAF1)	ENSP00000508612.1:n.*1505C>G
ENST00000685348.1:c.*1539C>G (RAF1)	ENSP00000510285.1:n.*1539C>G
ENST00000685437.1:c.1729C>G (RAF1)	ENSP00000508794.1:p.Gln577Glu
ENST00000685653.1:c.1828C>G (RAF1)	ENSP00000509968.1:p.Gln610Glu
ENST00000685697.1:n.2563C>G (RAF1)
ENST00000685738.1:c.*792C>G (RAF1)	ENSP00000510156.1:n.*792C>G
ENST00000686409.1:n.5237C>G (RAF1)
ENST00000686455.1:n.4549C>G (RAF1)
ENST00000686762.1:c.*387C>G (RAF1)	ENSP00000509767.1:n.*387C>G
ENST00000687257.1:n.4282C>G (RAF1)
ENST00000687326.1:c.*3120C>G (RAF1)	ENSP00000509665.1:n.*3120C>G
ENST00000687505.1:n.1946C>G (RAF1)
ENST00000687923.1:c.1717C>G (RAF1)	ENSP00000510255.1:p.Gln573Glu
ENST00000688269.1:n.2424C>G (RAF1)
ENST00000688444.1:n.3945C>G (RAF1)
ENST00000688543.1:c.1729C>G (RAF1)	ENSP00000509612.1:p.Gln577Glu
ENST00000688625.1:c.*3197C>G (RAF1)	ENSP00000509522.1:n.*3197C>G
ENST00000688803.1:n.3256C>G (RAF1)
ENST00000689097.1:c.*1505C>G (RAF1)	ENSP00000509756.1:n.*1505C>G
ENST00000689389.1:c.1651C>G (RAF1)	ENSP00000510213.1:p.Gln551Glu
ENST00000689418.1:c.*3723C>G (RAF1)	ENSP00000509467.1:n.*3723C>G
ENST00000689540.1:n.4196C>G (RAF1)
ENST00000689876.1:c.*377C>G (RAF1)	ENSP00000508535.1:n.*377C>G
ENST00000689914.1:c.*762C>G (RAF1)	ENSP00000509847.1:n.*762C>G
ENST00000690397.1:c.1717C>G (RAF1)	ENSP00000508730.1:p.Gln573Glu
ENST00000690460.1:c.1816C>G (RAF1)	ENSP00000509106.1:p.Gln606Glu
ENST00000690585.1:c.554C>G (RAF1)
ENST00000690625.1:n.2864C>G (RAF1)
ENST00000691396.1:c.*1700C>G (RAF1)	ENSP00000510712.1:n.*1700C>G
ENST00000691643.1:n.2881C>G (RAF1)
ENST00000691724.1:c.*785C>G (RAF1)	ENSP00000509255.1:n.*785C>G
ENST00000691779.1:c.*1406C>G (RAF1)	ENSP00000508592.1:n.*1406C>G
ENST00000691888.1:c.702C>G (RAF1)
ENST00000691899.1:c.1828C>G (RAF1)	ENSP00000508763.1:p.Gln610Glu
ENST00000692069.1:n.4752C>G (RAF1)
ENST00000692093.1:c.1729C>G (RAF1)	ENSP00000509669.1:p.Gln577Glu
ENST00000692311.1:n.2652C>G (RAF1)
ENST00000692558.1:n.4411C>G (RAF1)
ENST00000692773.1:c.*1565C>G (RAF1)	ENSP00000509055.1:n.*1565C>G
ENST00000692830.1:c.*1573C>G (RAF1)	ENSP00000509461.1:n.*1573C>G
ENST00000693312.1:c.1603C>G (RAF1)	ENSP00000508686.1:p.Gln535Glu
ENST00000693664.1:c.*279C>G (RAF1)	ENSP00000509614.1:n.*279C>G
ENST00000693705.1:c.*1207C>G (RAF1)	ENSP00000510697.1:n.*1207C>G
ENST00000251849.9:c.1828C>G (RAF1) MANE Select	ENSP00000251849.4:p.Gln610Glu
ENST00000442415.7:c.1888C>G (RAF1)	ENSP00000401888.2:p.Gln630Glu
ENST00000676541.1:c.*2380G>C (MKRN2)	ENSP00000503730.1:n.*2380G>C
ENST00000677142.1:c.*2380G>C (MKRN2)	ENSP00000504455.1:n.*2380G>C
ENST00000677816.1:c.*935G>C (MKRN2)	ENSP00000502893.1:n.*935G>C
ENST00000677941.1:n.2443G>C (MKRN2)
ENST00000251849.8:c.1828C>G (RAF1)	ENSP00000251849.4:p.Gln610Glu
ENST00000423275.5:c.*1505C>G (RAF1)	ENSP00000401088.1:n.*1505C>G
ENST00000432427.2:c.1465C>G (RAF1)	ENSP00000398591.2:p.Gln489Glu
ENST00000442415.6:c.1888C>G (RAF1)	ENSP00000401888.2:p.Gln630Glu
ENST00000471449.1:n.517C>G (RAF1)
NM_002880.3:c.1828C>G , LRG_413t1:c.1828C>G (RAF1)	NP_002871.1:p.Gln610Glu
XM_005265355.1:c.1828C>G (RAF1)	XP_005265412.1:p.Gln610Glu
XM_005265357.1:c.1729C>G (RAF1)	XP_005265414.1:p.Gln577Glu
XM_005265358.3:c.1585C>G (RAF1)	XP_005265415.1:p.Gln529Glu
XM_005265359.3:c.1486C>G (RAF1)	XP_005265416.1:p.Gln496Glu
XM_011533974.1:c.1828C>G (RAF1)	XP_011532276.1:p.Gln610Glu
XM_011533975.1:c.1585C>G (RAF1)	XP_011532277.1:p.Gln529Glu
NM_001354689.1:c.1888C>G (RAF1)	NP_001341618.1:p.Gln630Glu
NM_001354690.1:c.1828C>G (RAF1)	NP_001341619.1:p.Gln610Glu
NM_001354691.1:c.1585C>G (RAF1)	NP_001341620.1:p.Gln529Glu
NM_001354692.1:c.1585C>G (RAF1)	NP_001341621.1:p.Gln529Glu
NM_001354693.1:c.1729C>G (RAF1)	NP_001341622.1:p.Gln577Glu
NM_001354694.1:c.1645C>G (RAF1)	NP_001341623.1:p.Gln549Glu
NM_001354695.1:c.1486C>G (RAF1)	NP_001341624.1:p.Gln496Glu
NR_148940.1:n.2356C>G (RAF1)
NR_148941.1:n.2302C>G (RAF1)
NR_148942.1:n.2241C>G (RAF1)
XM_011533974.3:c.1828C>G (RAF1)	XP_011532276.1:p.Gln610Glu
XM_017006966.1:c.1729C>G (RAF1)	XP_016862455.1:p.Gln577Glu
NM_001354689.3:c.1888C>G (RAF1)	NP_001341618.1:p.Gln630Glu
NM_001354690.2:c.1828C>G (RAF1)	NP_001341619.1:p.Gln610Glu
NM_001354691.2:c.1585C>G (RAF1)	NP_001341620.1:p.Gln529Glu
NM_001354692.2:c.1585C>G (RAF1)	NP_001341621.1:p.Gln529Glu
NM_001354693.2:c.1729C>G (RAF1)	NP_001341622.1:p.Gln577Glu
NM_001354694.2:c.1645C>G (RAF1)	NP_001341623.1:p.Gln549Glu
NM_001354695.2:c.1486C>G (RAF1)	NP_001341624.1:p.Gln496Glu
NR_148940.2:n.2272C>G (RAF1)
NR_148941.2:n.2218C>G (RAF1)
NR_148942.2:n.2157C>G (RAF1)
NM_001354690.3:c.1828C>G (RAF1)	NP_001341619.1:p.Gln610Glu
NM_001354691.3:c.1585C>G (RAF1)	NP_001341620.1:p.Gln529Glu
NM_001354692.3:c.1585C>G (RAF1)	NP_001341621.1:p.Gln529Glu
NM_001354693.3:c.1729C>G (RAF1)	NP_001341622.1:p.Gln577Glu
NM_001354694.3:c.1645C>G (RAF1)	NP_001341623.1:p.Gln549Glu
NM_001354695.3:c.1486C>G (RAF1)	NP_001341624.1:p.Gln496Glu
NM_002880.4:c.1828C>G (RAF1) MANE Select	NP_002871.1:p.Gln610Glu
NR_148940.3:n.2272C>G (RAF1)
NR_148941.3:n.2218C>G (RAF1)
NR_148942.3:n.2157C>G (RAF1)