Canonical Allele Identifier: CA351499221

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627276T>A (hg19) ; chr3:g.12585777T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585777T>A , CM000665.2:g.12585777T>A	GRCh38
NC_000003.11:g.12627276T>A , CM000665.1:g.12627276T>A	GRCh37
NC_000003.10:g.12602276T>A	NCBI36
NG_007467.1:g.83403A>T , LRG_413:g.83403A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1105A>T (RAF1)	ENSP00000401088.1:n.*1105A>T
ENST00000432427.3:c.757A>T (RAF1)
ENST00000460610.2:n.5185A>T (RAF1)
ENST00000471449.2:n.250A>T (RAF1)
ENST00000475353.2:n.3153A>T (RAF1)
ENST00000684903.1:c.*1117A>T (RAF1)	ENSP00000508612.1:n.*1117A>T
ENST00000685348.1:c.*1095-371A>T (RAF1)	ENSP00000510285.1:n.*1095-371A>T
ENST00000685437.1:c.1341A>T (RAF1)	ENSP00000508794.1:p.Leu447Phe
ENST00000685653.1:c.1440A>T (RAF1)	ENSP00000509968.1:p.Leu480Phe
ENST00000685697.1:n.2175A>T (RAF1)
ENST00000685738.1:c.*404A>T (RAF1)	ENSP00000510156.1:n.*404A>T
ENST00000686409.1:n.4282A>T (RAF1)
ENST00000686455.1:n.3594A>T (RAF1)
ENST00000686762.1:c.1460A>T (RAF1)	ENSP00000509767.1:p.Ter487Leu
ENST00000687257.1:n.3467A>T (RAF1)
ENST00000687326.1:c.*2165A>T (RAF1)	ENSP00000509665.1:n.*2165A>T
ENST00000687505.1:n.1558A>T (RAF1)
ENST00000687923.1:c.1329A>T (RAF1)	ENSP00000510255.1:p.Leu443Phe
ENST00000688269.1:n.2036A>T (RAF1)
ENST00000688444.1:n.3557A>T (RAF1)
ENST00000688543.1:c.1341A>T (RAF1)	ENSP00000509612.1:p.Leu447Phe
ENST00000688625.1:c.*2809A>T (RAF1)	ENSP00000509522.1:n.*2809A>T
ENST00000688803.1:n.2964+498A>T (RAF1)
ENST00000688914.1:n.426A>T (RAF1)
ENST00000689097.1:c.*1117A>T (RAF1)	ENSP00000509756.1:n.*1117A>T
ENST00000689389.1:c.1263A>T (RAF1)	ENSP00000510213.1:p.Leu421Phe
ENST00000689418.1:c.*2908A>T (RAF1)	ENSP00000509467.1:n.*2908A>T
ENST00000689540.1:n.3381A>T (RAF1)
ENST00000689876.1:c.1418-371A>T (RAF1)	ENSP00000508535.1:n.1418-371A>T
ENST00000689914.1:c.*374A>T (RAF1)	ENSP00000509847.1:n.*374A>T
ENST00000690397.1:c.1329A>T (RAF1)	ENSP00000508730.1:p.Leu443Phe
ENST00000690460.1:c.1428A>T (RAF1)	ENSP00000509106.1:p.Leu476Phe
ENST00000690585.1:c.263-524A>T (RAF1)
ENST00000690625.1:n.2476A>T (RAF1)
ENST00000691396.1:c.*1312A>T (RAF1)	ENSP00000510712.1:n.*1312A>T
ENST00000691643.1:n.2066A>T (RAF1)
ENST00000691724.1:c.*397A>T (RAF1)	ENSP00000509255.1:n.*397A>T
ENST00000691779.1:c.*1018A>T (RAF1)	ENSP00000508592.1:n.*1018A>T
ENST00000691888.1:c.314A>T (RAF1)
ENST00000691899.1:c.1440A>T (RAF1)	ENSP00000508763.1:p.Leu480Phe
ENST00000692069.1:n.3797A>T (RAF1)
ENST00000692093.1:c.1341A>T (RAF1)	ENSP00000509669.1:p.Leu447Phe
ENST00000692311.1:n.2264A>T (RAF1)
ENST00000692558.1:n.3596A>T (RAF1)
ENST00000692773.1:c.*1177A>T (RAF1)	ENSP00000509055.1:n.*1177A>T
ENST00000692830.1:c.*1185A>T (RAF1)	ENSP00000509461.1:n.*1185A>T
ENST00000693312.1:c.1215A>T (RAF1)	ENSP00000508686.1:p.Leu405Phe
ENST00000693664.1:c.1487+498A>T (RAF1)	ENSP00000509614.1:n.1487+498A>T
ENST00000693705.1:c.*1048-796A>T (RAF1)	ENSP00000510697.1:n.*1048-796A>T
ENST00000251849.9:c.1440A>T (RAF1) MANE Select	ENSP00000251849.4:p.Leu480Phe
ENST00000442415.7:c.1500A>T (RAF1)	ENSP00000401888.2:p.Leu500Phe
ENST00000676541.1:c.*3524T>A (MKRN2)	ENSP00000503730.1:n.*3524T>A
ENST00000677142.1:c.*3524T>A (MKRN2)	ENSP00000504455.1:n.*3524T>A
ENST00000677816.1:c.*2079T>A (MKRN2)	ENSP00000502893.1:n.*2079T>A
ENST00000677941.1:n.3587T>A (MKRN2)
ENST00000251849.8:c.1440A>T (RAF1)	ENSP00000251849.4:p.Leu480Phe
ENST00000423275.5:c.*1117A>T (RAF1)	ENSP00000401088.1:n.*1117A>T
ENST00000432427.2:c.1077A>T (RAF1)	ENSP00000398591.2:p.Leu359Phe
ENST00000442415.6:c.1500A>T (RAF1)	ENSP00000401888.2:p.Leu500Phe
ENST00000471449.1:n.129A>T (RAF1)
NM_002880.3:c.1440A>T , LRG_413t1:c.1440A>T (RAF1)	NP_002871.1:p.Leu480Phe
XM_005265355.1:c.1440A>T (RAF1)	XP_005265412.1:p.Leu480Phe
XM_005265357.1:c.1341A>T (RAF1)	XP_005265414.1:p.Leu447Phe
XM_005265358.3:c.1197A>T (RAF1)	XP_005265415.1:p.Leu399Phe
XM_005265359.3:c.1098A>T (RAF1)	XP_005265416.1:p.Leu366Phe
XM_005265360.1:c.1418-371A>T (RAF1)	XP_005265417.1:n.1418-371A>T
XM_011533974.1:c.1440A>T (RAF1)	XP_011532276.1:p.Leu480Phe
XM_011533975.1:c.1197A>T (RAF1)	XP_011532277.1:p.Leu399Phe
NM_001354689.1:c.1500A>T (RAF1)	NP_001341618.1:p.Leu500Phe
NM_001354690.1:c.1440A>T (RAF1)	NP_001341619.1:p.Leu480Phe
NM_001354691.1:c.1197A>T (RAF1)	NP_001341620.1:p.Leu399Phe
NM_001354692.1:c.1197A>T (RAF1)	NP_001341621.1:p.Leu399Phe
NM_001354693.1:c.1341A>T (RAF1)	NP_001341622.1:p.Leu447Phe
NM_001354694.1:c.1257A>T (RAF1)	NP_001341623.1:p.Leu419Phe
NM_001354695.1:c.1098A>T (RAF1)	NP_001341624.1:p.Leu366Phe
NR_148940.1:n.1968A>T (RAF1)
NR_148941.1:n.1914A>T (RAF1)
NR_148942.1:n.1853A>T (RAF1)
XM_011533974.3:c.1440A>T (RAF1)	XP_011532276.1:p.Leu480Phe
XM_017006966.1:c.1341A>T (RAF1)	XP_016862455.1:p.Leu447Phe
NM_001354689.3:c.1500A>T (RAF1)	NP_001341618.1:p.Leu500Phe
NM_001354690.2:c.1440A>T (RAF1)	NP_001341619.1:p.Leu480Phe
NM_001354691.2:c.1197A>T (RAF1)	NP_001341620.1:p.Leu399Phe
NM_001354692.2:c.1197A>T (RAF1)	NP_001341621.1:p.Leu399Phe
NM_001354693.2:c.1341A>T (RAF1)	NP_001341622.1:p.Leu447Phe
NM_001354694.2:c.1257A>T (RAF1)	NP_001341623.1:p.Leu419Phe
NM_001354695.2:c.1098A>T (RAF1)	NP_001341624.1:p.Leu366Phe
NR_148940.2:n.1884A>T (RAF1)
NR_148941.2:n.1830A>T (RAF1)
NR_148942.2:n.1769A>T (RAF1)
NM_001354690.3:c.1440A>T (RAF1)	NP_001341619.1:p.Leu480Phe
NM_001354691.3:c.1197A>T (RAF1)	NP_001341620.1:p.Leu399Phe
NM_001354692.3:c.1197A>T (RAF1)	NP_001341621.1:p.Leu399Phe
NM_001354693.3:c.1341A>T (RAF1)	NP_001341622.1:p.Leu447Phe
NM_001354694.3:c.1257A>T (RAF1)	NP_001341623.1:p.Leu419Phe
NM_001354695.3:c.1098A>T (RAF1)	NP_001341624.1:p.Leu366Phe
NM_002880.4:c.1440A>T (RAF1) MANE Select	NP_002871.1:p.Leu480Phe
NR_148940.3:n.1884A>T (RAF1)
NR_148941.3:n.1830A>T (RAF1)
NR_148942.3:n.1769A>T (RAF1)