Canonical Allele Identifier: CA351499058

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs546131178
• gnomAD v4: 3-12585733-C-A
• MyVariant Identifiers: chr3:g.12627232C>A (hg19) ; chr3:g.12585733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585733C>A , CM000665.2:g.12585733C>A	GRCh38
NC_000003.11:g.12627232C>A , CM000665.1:g.12627232C>A	GRCh37
NC_000003.10:g.12602232C>A	NCBI36
NG_007467.1:g.83447G>T , LRG_413:g.83447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1149G>T (RAF1)	ENSP00000401088.1:n.*1149G>T
ENST00000432427.3:c.801G>T (RAF1)
ENST00000460610.2:n.5229G>T (RAF1)
ENST00000471449.2:n.294G>T (RAF1)
ENST00000475353.2:n.3197G>T (RAF1)
ENST00000684903.1:c.*1161G>T (RAF1)	ENSP00000508612.1:n.*1161G>T
ENST00000685348.1:c.*1095-327G>T (RAF1)	ENSP00000510285.1:n.*1095-327G>T
ENST00000685437.1:c.1385G>T (RAF1)	ENSP00000508794.1:p.Arg462Leu
ENST00000685653.1:c.1484G>T (RAF1)	ENSP00000509968.1:p.Arg495Leu
ENST00000685697.1:n.2219G>T (RAF1)
ENST00000685738.1:c.*448G>T (RAF1)	ENSP00000510156.1:n.*448G>T
ENST00000686409.1:n.4326G>T (RAF1)
ENST00000686455.1:n.3638G>T (RAF1)
ENST00000686762.1:c.*43G>T (RAF1)	ENSP00000509767.1:n.*43G>T
ENST00000687257.1:n.3511G>T (RAF1)
ENST00000687326.1:c.*2209G>T (RAF1)	ENSP00000509665.1:n.*2209G>T
ENST00000687505.1:n.1602G>T (RAF1)
ENST00000687923.1:c.1373G>T (RAF1)	ENSP00000510255.1:p.Arg458Leu
ENST00000688269.1:n.2080G>T (RAF1)
ENST00000688444.1:n.3601G>T (RAF1)
ENST00000688543.1:c.1385G>T (RAF1)	ENSP00000509612.1:p.Arg462Leu
ENST00000688625.1:c.*2853G>T (RAF1)	ENSP00000509522.1:n.*2853G>T
ENST00000688803.1:n.2965-480G>T (RAF1)
ENST00000688914.1:n.470G>T (RAF1)
ENST00000689097.1:c.*1161G>T (RAF1)	ENSP00000509756.1:n.*1161G>T
ENST00000689389.1:c.1307G>T (RAF1)	ENSP00000510213.1:p.Arg436Leu
ENST00000689418.1:c.*2952G>T (RAF1)	ENSP00000509467.1:n.*2952G>T
ENST00000689540.1:n.3425G>T (RAF1)
ENST00000689876.1:c.1418-327G>T (RAF1)	ENSP00000508535.1:n.1418-327G>T
ENST00000689914.1:c.*418G>T (RAF1)	ENSP00000509847.1:n.*418G>T
ENST00000690397.1:c.1373G>T (RAF1)	ENSP00000508730.1:p.Arg458Leu
ENST00000690460.1:c.1472G>T (RAF1)	ENSP00000509106.1:p.Arg491Leu
ENST00000690585.1:c.263-480G>T (RAF1)
ENST00000690625.1:n.2520G>T (RAF1)
ENST00000691396.1:c.*1356G>T (RAF1)	ENSP00000510712.1:n.*1356G>T
ENST00000691643.1:n.2110G>T (RAF1)
ENST00000691724.1:c.*441G>T (RAF1)	ENSP00000509255.1:n.*441G>T
ENST00000691779.1:c.*1062G>T (RAF1)	ENSP00000508592.1:n.*1062G>T
ENST00000691888.1:c.358G>T (RAF1)
ENST00000691899.1:c.1484G>T (RAF1)	ENSP00000508763.1:p.Arg495Leu
ENST00000692069.1:n.3841G>T (RAF1)
ENST00000692093.1:c.1385G>T (RAF1)	ENSP00000509669.1:p.Arg462Leu
ENST00000692311.1:n.2308G>T (RAF1)
ENST00000692558.1:n.3640G>T (RAF1)
ENST00000692773.1:c.*1221G>T (RAF1)	ENSP00000509055.1:n.*1221G>T
ENST00000692830.1:c.*1229G>T (RAF1)	ENSP00000509461.1:n.*1229G>T
ENST00000693312.1:c.1259G>T (RAF1)	ENSP00000508686.1:p.Arg420Leu
ENST00000693664.1:c.1488-480G>T (RAF1)	ENSP00000509614.1:n.1488-480G>T
ENST00000693705.1:c.*1048-752G>T (RAF1)	ENSP00000510697.1:n.*1048-752G>T
ENST00000251849.9:c.1484G>T (RAF1) MANE Select	ENSP00000251849.4:p.Arg495Leu
ENST00000442415.7:c.1544G>T (RAF1)	ENSP00000401888.2:p.Arg515Leu
ENST00000676541.1:c.*3480C>A (MKRN2)	ENSP00000503730.1:n.*3480C>A
ENST00000677142.1:c.*3480C>A (MKRN2)	ENSP00000504455.1:n.*3480C>A
ENST00000677816.1:c.*2035C>A (MKRN2)	ENSP00000502893.1:n.*2035C>A
ENST00000677941.1:n.3543C>A (MKRN2)
ENST00000251849.8:c.1484G>T (RAF1)	ENSP00000251849.4:p.Arg495Leu
ENST00000423275.5:c.*1161G>T (RAF1)	ENSP00000401088.1:n.*1161G>T
ENST00000432427.2:c.1121G>T (RAF1)	ENSP00000398591.2:p.Arg374Leu
ENST00000442415.6:c.1544G>T (RAF1)	ENSP00000401888.2:p.Arg515Leu
ENST00000471449.1:n.173G>T (RAF1)
NM_002880.3:c.1484G>T , LRG_413t1:c.1484G>T (RAF1)	NP_002871.1:p.Arg495Leu
XM_005265355.1:c.1484G>T (RAF1)	XP_005265412.1:p.Arg495Leu
XM_005265357.1:c.1385G>T (RAF1)	XP_005265414.1:p.Arg462Leu
XM_005265358.3:c.1241G>T (RAF1)	XP_005265415.1:p.Arg414Leu
XM_005265359.3:c.1142G>T (RAF1)	XP_005265416.1:p.Arg381Leu
XM_005265360.1:c.1418-327G>T (RAF1)	XP_005265417.1:n.1418-327G>T
XM_011533974.1:c.1484G>T (RAF1)	XP_011532276.1:p.Arg495Leu
XM_011533975.1:c.1241G>T (RAF1)	XP_011532277.1:p.Arg414Leu
NM_001354689.1:c.1544G>T (RAF1)	NP_001341618.1:p.Arg515Leu
NM_001354690.1:c.1484G>T (RAF1)	NP_001341619.1:p.Arg495Leu
NM_001354691.1:c.1241G>T (RAF1)	NP_001341620.1:p.Arg414Leu
NM_001354692.1:c.1241G>T (RAF1)	NP_001341621.1:p.Arg414Leu
NM_001354693.1:c.1385G>T (RAF1)	NP_001341622.1:p.Arg462Leu
NM_001354694.1:c.1301G>T (RAF1)	NP_001341623.1:p.Arg434Leu
NM_001354695.1:c.1142G>T (RAF1)	NP_001341624.1:p.Arg381Leu
NR_148940.1:n.2012G>T (RAF1)
NR_148941.1:n.1958G>T (RAF1)
NR_148942.1:n.1897G>T (RAF1)
XM_011533974.3:c.1484G>T (RAF1)	XP_011532276.1:p.Arg495Leu
XM_017006966.1:c.1385G>T (RAF1)	XP_016862455.1:p.Arg462Leu
NM_001354689.3:c.1544G>T (RAF1)	NP_001341618.1:p.Arg515Leu
NM_001354690.2:c.1484G>T (RAF1)	NP_001341619.1:p.Arg495Leu
NM_001354691.2:c.1241G>T (RAF1)	NP_001341620.1:p.Arg414Leu
NM_001354692.2:c.1241G>T (RAF1)	NP_001341621.1:p.Arg414Leu
NM_001354693.2:c.1385G>T (RAF1)	NP_001341622.1:p.Arg462Leu
NM_001354694.2:c.1301G>T (RAF1)	NP_001341623.1:p.Arg434Leu
NM_001354695.2:c.1142G>T (RAF1)	NP_001341624.1:p.Arg381Leu
NR_148940.2:n.1928G>T (RAF1)
NR_148941.2:n.1874G>T (RAF1)
NR_148942.2:n.1813G>T (RAF1)
NM_001354690.3:c.1484G>T (RAF1)	NP_001341619.1:p.Arg495Leu
NM_001354691.3:c.1241G>T (RAF1)	NP_001341620.1:p.Arg414Leu
NM_001354692.3:c.1241G>T (RAF1)	NP_001341621.1:p.Arg414Leu
NM_001354693.3:c.1385G>T (RAF1)	NP_001341622.1:p.Arg462Leu
NM_001354694.3:c.1301G>T (RAF1)	NP_001341623.1:p.Arg434Leu
NM_001354695.3:c.1142G>T (RAF1)	NP_001341624.1:p.Arg381Leu
NM_002880.4:c.1484G>T (RAF1) MANE Select	NP_002871.1:p.Arg495Leu
NR_148940.3:n.1928G>T (RAF1)
NR_148941.3:n.1874G>T (RAF1)
NR_148942.3:n.1813G>T (RAF1)