Canonical Allele Identifier: CA351496818

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626431A>C (hg19) ; chr3:g.12584932A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584932A>C , CM000665.2:g.12584932A>C	GRCh38
NC_000003.11:g.12626431A>C , CM000665.1:g.12626431A>C	GRCh37
NC_000003.10:g.12601431A>C	NCBI36
NG_007467.1:g.84248T>G , LRG_413:g.84248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1383T>G (RAF1)	ENSP00000401088.1:n.*1383T>G
ENST00000432427.3:c.1035T>G (RAF1)
ENST00000460610.2:n.6030T>G (RAF1)
ENST00000471449.2:n.528T>G (RAF1)
ENST00000475353.2:n.3998T>G (RAF1)
ENST00000684903.1:c.*1395T>G (RAF1)	ENSP00000508612.1:n.*1395T>G
ENST00000685348.1:c.*1429T>G (RAF1)	ENSP00000510285.1:n.*1429T>G
ENST00000685437.1:c.1619T>G (RAF1)	ENSP00000508794.1:p.Leu540Arg
ENST00000685653.1:c.1718T>G (RAF1)	ENSP00000509968.1:p.Leu573Arg
ENST00000685697.1:n.2453T>G (RAF1)
ENST00000685738.1:c.*682T>G (RAF1)	ENSP00000510156.1:n.*682T>G
ENST00000686409.1:n.5127T>G (RAF1)
ENST00000686455.1:n.4439T>G (RAF1)
ENST00000686762.1:c.*277T>G (RAF1)	ENSP00000509767.1:n.*277T>G
ENST00000687257.1:n.4172T>G (RAF1)
ENST00000687326.1:c.*3010T>G (RAF1)	ENSP00000509665.1:n.*3010T>G
ENST00000687505.1:n.1836T>G (RAF1)
ENST00000687923.1:c.1607T>G (RAF1)	ENSP00000510255.1:p.Leu536Arg
ENST00000688269.1:n.2314T>G (RAF1)
ENST00000688444.1:n.3835T>G (RAF1)
ENST00000688543.1:c.1619T>G (RAF1)	ENSP00000509612.1:p.Leu540Arg
ENST00000688625.1:c.*3087T>G (RAF1)	ENSP00000509522.1:n.*3087T>G
ENST00000688803.1:n.3146T>G (RAF1)
ENST00000688914.1:n.1131T>G (RAF1)
ENST00000689097.1:c.*1395T>G (RAF1)	ENSP00000509756.1:n.*1395T>G
ENST00000689389.1:c.1541T>G (RAF1)	ENSP00000510213.1:p.Leu514Arg
ENST00000689418.1:c.*3613T>G (RAF1)	ENSP00000509467.1:n.*3613T>G
ENST00000689540.1:n.4086T>G (RAF1)
ENST00000689876.1:c.*267T>G (RAF1)	ENSP00000508535.1:n.*267T>G
ENST00000689914.1:c.*652T>G (RAF1)	ENSP00000509847.1:n.*652T>G
ENST00000690397.1:c.1607T>G (RAF1)	ENSP00000508730.1:p.Leu536Arg
ENST00000690460.1:c.1706T>G (RAF1)	ENSP00000509106.1:p.Leu569Arg
ENST00000690585.1:c.444T>G (RAF1)
ENST00000690625.1:n.2754T>G (RAF1)
ENST00000691396.1:c.*1590T>G (RAF1)	ENSP00000510712.1:n.*1590T>G
ENST00000691643.1:n.2771T>G (RAF1)
ENST00000691724.1:c.*675T>G (RAF1)	ENSP00000509255.1:n.*675T>G
ENST00000691779.1:c.*1296T>G (RAF1)	ENSP00000508592.1:n.*1296T>G
ENST00000691888.1:c.592T>G (RAF1)
ENST00000691899.1:c.1718T>G (RAF1)	ENSP00000508763.1:p.Leu573Arg
ENST00000692069.1:n.4642T>G (RAF1)
ENST00000692093.1:c.1619T>G (RAF1)	ENSP00000509669.1:p.Leu540Arg
ENST00000692311.1:n.2542T>G (RAF1)
ENST00000692558.1:n.4301T>G (RAF1)
ENST00000692773.1:c.*1455T>G (RAF1)	ENSP00000509055.1:n.*1455T>G
ENST00000692830.1:c.*1463T>G (RAF1)	ENSP00000509461.1:n.*1463T>G
ENST00000693312.1:c.1493T>G (RAF1)	ENSP00000508686.1:p.Leu498Arg
ENST00000693664.1:c.*169T>G (RAF1)	ENSP00000509614.1:n.*169T>G
ENST00000693705.1:c.*1097T>G (RAF1)	ENSP00000510697.1:n.*1097T>G
ENST00000251849.9:c.1718T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu573Arg
ENST00000442415.7:c.1778T>G (RAF1)	ENSP00000401888.2:p.Leu593Arg
ENST00000676541.1:c.*2679A>C (MKRN2)	ENSP00000503730.1:n.*2679A>C
ENST00000677142.1:c.*2679A>C (MKRN2)	ENSP00000504455.1:n.*2679A>C
ENST00000677816.1:c.*1234A>C (MKRN2)	ENSP00000502893.1:n.*1234A>C
ENST00000677941.1:n.2742A>C (MKRN2)
ENST00000251849.8:c.1718T>G (RAF1)	ENSP00000251849.4:p.Leu573Arg
ENST00000423275.5:c.*1395T>G (RAF1)	ENSP00000401088.1:n.*1395T>G
ENST00000432427.2:c.1355T>G (RAF1)	ENSP00000398591.2:p.Leu452Arg
ENST00000442415.6:c.1778T>G (RAF1)	ENSP00000401888.2:p.Leu593Arg
ENST00000471449.1:n.407T>G (RAF1)
NM_002880.3:c.1718T>G , LRG_413t1:c.1718T>G (RAF1)	NP_002871.1:p.Leu573Arg
XM_005265355.1:c.1718T>G (RAF1)	XP_005265412.1:p.Leu573Arg
XM_005265357.1:c.1619T>G (RAF1)	XP_005265414.1:p.Leu540Arg
XM_005265358.3:c.1475T>G (RAF1)	XP_005265415.1:p.Leu492Arg
XM_005265359.3:c.1376T>G (RAF1)	XP_005265416.1:p.Leu459Arg
XM_011533974.1:c.1718T>G (RAF1)	XP_011532276.1:p.Leu573Arg
XM_011533975.1:c.1475T>G (RAF1)	XP_011532277.1:p.Leu492Arg
NM_001354689.1:c.1778T>G (RAF1)	NP_001341618.1:p.Leu593Arg
NM_001354690.1:c.1718T>G (RAF1)	NP_001341619.1:p.Leu573Arg
NM_001354691.1:c.1475T>G (RAF1)	NP_001341620.1:p.Leu492Arg
NM_001354692.1:c.1475T>G (RAF1)	NP_001341621.1:p.Leu492Arg
NM_001354693.1:c.1619T>G (RAF1)	NP_001341622.1:p.Leu540Arg
NM_001354694.1:c.1535T>G (RAF1)	NP_001341623.1:p.Leu512Arg
NM_001354695.1:c.1376T>G (RAF1)	NP_001341624.1:p.Leu459Arg
NR_148940.1:n.2246T>G (RAF1)
NR_148941.1:n.2192T>G (RAF1)
NR_148942.1:n.2131T>G (RAF1)
XM_011533974.3:c.1718T>G (RAF1)	XP_011532276.1:p.Leu573Arg
XM_017006966.1:c.1619T>G (RAF1)	XP_016862455.1:p.Leu540Arg
NM_001354689.3:c.1778T>G (RAF1)	NP_001341618.1:p.Leu593Arg
NM_001354690.2:c.1718T>G (RAF1)	NP_001341619.1:p.Leu573Arg
NM_001354691.2:c.1475T>G (RAF1)	NP_001341620.1:p.Leu492Arg
NM_001354692.2:c.1475T>G (RAF1)	NP_001341621.1:p.Leu492Arg
NM_001354693.2:c.1619T>G (RAF1)	NP_001341622.1:p.Leu540Arg
NM_001354694.2:c.1535T>G (RAF1)	NP_001341623.1:p.Leu512Arg
NM_001354695.2:c.1376T>G (RAF1)	NP_001341624.1:p.Leu459Arg
NR_148940.2:n.2162T>G (RAF1)
NR_148941.2:n.2108T>G (RAF1)
NR_148942.2:n.2047T>G (RAF1)
NM_001354690.3:c.1718T>G (RAF1)	NP_001341619.1:p.Leu573Arg
NM_001354691.3:c.1475T>G (RAF1)	NP_001341620.1:p.Leu492Arg
NM_001354692.3:c.1475T>G (RAF1)	NP_001341621.1:p.Leu492Arg
NM_001354693.3:c.1619T>G (RAF1)	NP_001341622.1:p.Leu540Arg
NM_001354694.3:c.1535T>G (RAF1)	NP_001341623.1:p.Leu512Arg
NM_001354695.3:c.1376T>G (RAF1)	NP_001341624.1:p.Leu459Arg
NM_002880.4:c.1718T>G (RAF1) MANE Select	NP_002871.1:p.Leu573Arg
NR_148940.3:n.2162T>G (RAF1)
NR_148941.3:n.2108T>G (RAF1)
NR_148942.3:n.2047T>G (RAF1)