Canonical Allele Identifier: CA351499124

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125326187
• MyVariant Identifiers: chr3:g.12627250A>T (hg19) ; chr3:g.12585751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585751A>T , CM000665.2:g.12585751A>T	GRCh38
NC_000003.11:g.12627250A>T , CM000665.1:g.12627250A>T	GRCh37
NC_000003.10:g.12602250A>T	NCBI36
NG_007467.1:g.83429T>A , LRG_413:g.83429T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1131T>A (RAF1)	ENSP00000401088.1:n.*1131T>A
ENST00000432427.3:c.783T>A (RAF1)
ENST00000460610.2:n.5211T>A (RAF1)
ENST00000471449.2:n.276T>A (RAF1)
ENST00000475353.2:n.3179T>A (RAF1)
ENST00000684903.1:c.*1143T>A (RAF1)	ENSP00000508612.1:n.*1143T>A
ENST00000685348.1:c.*1095-345T>A (RAF1)	ENSP00000510285.1:n.*1095-345T>A
ENST00000685437.1:c.1367T>A (RAF1)	ENSP00000508794.1:p.Leu456Ter
ENST00000685653.1:c.1466T>A (RAF1)	ENSP00000509968.1:p.Leu489Ter
ENST00000685697.1:n.2201T>A (RAF1)
ENST00000685738.1:c.*430T>A (RAF1)	ENSP00000510156.1:n.*430T>A
ENST00000686409.1:n.4308T>A (RAF1)
ENST00000686455.1:n.3620T>A (RAF1)
ENST00000686762.1:c.*25T>A (RAF1)	ENSP00000509767.1:n.*25T>A
ENST00000687257.1:n.3493T>A (RAF1)
ENST00000687326.1:c.*2191T>A (RAF1)	ENSP00000509665.1:n.*2191T>A
ENST00000687505.1:n.1584T>A (RAF1)
ENST00000687923.1:c.1355T>A (RAF1)	ENSP00000510255.1:p.Leu452Ter
ENST00000688269.1:n.2062T>A (RAF1)
ENST00000688444.1:n.3583T>A (RAF1)
ENST00000688543.1:c.1367T>A (RAF1)	ENSP00000509612.1:p.Leu456Ter
ENST00000688625.1:c.*2835T>A (RAF1)	ENSP00000509522.1:n.*2835T>A
ENST00000688803.1:n.2965-498T>A (RAF1)
ENST00000688914.1:n.452T>A (RAF1)
ENST00000689097.1:c.*1143T>A (RAF1)	ENSP00000509756.1:n.*1143T>A
ENST00000689389.1:c.1289T>A (RAF1)	ENSP00000510213.1:p.Leu430Ter
ENST00000689418.1:c.*2934T>A (RAF1)	ENSP00000509467.1:n.*2934T>A
ENST00000689540.1:n.3407T>A (RAF1)
ENST00000689876.1:c.1418-345T>A (RAF1)	ENSP00000508535.1:n.1418-345T>A
ENST00000689914.1:c.*400T>A (RAF1)	ENSP00000509847.1:n.*400T>A
ENST00000690397.1:c.1355T>A (RAF1)	ENSP00000508730.1:p.Leu452Ter
ENST00000690460.1:c.1454T>A (RAF1)	ENSP00000509106.1:p.Leu485Ter
ENST00000690585.1:c.263-498T>A (RAF1)
ENST00000690625.1:n.2502T>A (RAF1)
ENST00000691396.1:c.*1338T>A (RAF1)	ENSP00000510712.1:n.*1338T>A
ENST00000691643.1:n.2092T>A (RAF1)
ENST00000691724.1:c.*423T>A (RAF1)	ENSP00000509255.1:n.*423T>A
ENST00000691779.1:c.*1044T>A (RAF1)	ENSP00000508592.1:n.*1044T>A
ENST00000691888.1:c.340T>A (RAF1)
ENST00000691899.1:c.1466T>A (RAF1)	ENSP00000508763.1:p.Leu489Ter
ENST00000692069.1:n.3823T>A (RAF1)
ENST00000692093.1:c.1367T>A (RAF1)	ENSP00000509669.1:p.Leu456Ter
ENST00000692311.1:n.2290T>A (RAF1)
ENST00000692558.1:n.3622T>A (RAF1)
ENST00000692773.1:c.*1203T>A (RAF1)	ENSP00000509055.1:n.*1203T>A
ENST00000692830.1:c.*1211T>A (RAF1)	ENSP00000509461.1:n.*1211T>A
ENST00000693312.1:c.1241T>A (RAF1)	ENSP00000508686.1:p.Leu414Ter
ENST00000693664.1:c.1488-498T>A (RAF1)	ENSP00000509614.1:n.1488-498T>A
ENST00000693705.1:c.*1048-770T>A (RAF1)	ENSP00000510697.1:n.*1048-770T>A
ENST00000251849.9:c.1466T>A (RAF1) MANE Select	ENSP00000251849.4:p.Leu489Ter
ENST00000442415.7:c.1526T>A (RAF1)	ENSP00000401888.2:p.Leu509Ter
ENST00000676541.1:c.*3498A>T (MKRN2)	ENSP00000503730.1:n.*3498A>T
ENST00000677142.1:c.*3498A>T (MKRN2)	ENSP00000504455.1:n.*3498A>T
ENST00000677816.1:c.*2053A>T (MKRN2)	ENSP00000502893.1:n.*2053A>T
ENST00000677941.1:n.3561A>T (MKRN2)
ENST00000251849.8:c.1466T>A (RAF1)	ENSP00000251849.4:p.Leu489Ter
ENST00000423275.5:c.*1143T>A (RAF1)	ENSP00000401088.1:n.*1143T>A
ENST00000432427.2:c.1103T>A (RAF1)	ENSP00000398591.2:p.Leu368Ter
ENST00000442415.6:c.1526T>A (RAF1)	ENSP00000401888.2:p.Leu509Ter
ENST00000471449.1:n.155T>A (RAF1)
NM_002880.3:c.1466T>A , LRG_413t1:c.1466T>A (RAF1)	NP_002871.1:p.Leu489Ter
XM_005265355.1:c.1466T>A (RAF1)	XP_005265412.1:p.Leu489Ter
XM_005265357.1:c.1367T>A (RAF1)	XP_005265414.1:p.Leu456Ter
XM_005265358.3:c.1223T>A (RAF1)	XP_005265415.1:p.Leu408Ter
XM_005265359.3:c.1124T>A (RAF1)	XP_005265416.1:p.Leu375Ter
XM_005265360.1:c.1418-345T>A (RAF1)	XP_005265417.1:n.1418-345T>A
XM_011533974.1:c.1466T>A (RAF1)	XP_011532276.1:p.Leu489Ter
XM_011533975.1:c.1223T>A (RAF1)	XP_011532277.1:p.Leu408Ter
NM_001354689.1:c.1526T>A (RAF1)	NP_001341618.1:p.Leu509Ter
NM_001354690.1:c.1466T>A (RAF1)	NP_001341619.1:p.Leu489Ter
NM_001354691.1:c.1223T>A (RAF1)	NP_001341620.1:p.Leu408Ter
NM_001354692.1:c.1223T>A (RAF1)	NP_001341621.1:p.Leu408Ter
NM_001354693.1:c.1367T>A (RAF1)	NP_001341622.1:p.Leu456Ter
NM_001354694.1:c.1283T>A (RAF1)	NP_001341623.1:p.Leu428Ter
NM_001354695.1:c.1124T>A (RAF1)	NP_001341624.1:p.Leu375Ter
NR_148940.1:n.1994T>A (RAF1)
NR_148941.1:n.1940T>A (RAF1)
NR_148942.1:n.1879T>A (RAF1)
XM_011533974.3:c.1466T>A (RAF1)	XP_011532276.1:p.Leu489Ter
XM_017006966.1:c.1367T>A (RAF1)	XP_016862455.1:p.Leu456Ter
NM_001354689.3:c.1526T>A (RAF1)	NP_001341618.1:p.Leu509Ter
NM_001354690.2:c.1466T>A (RAF1)	NP_001341619.1:p.Leu489Ter
NM_001354691.2:c.1223T>A (RAF1)	NP_001341620.1:p.Leu408Ter
NM_001354692.2:c.1223T>A (RAF1)	NP_001341621.1:p.Leu408Ter
NM_001354693.2:c.1367T>A (RAF1)	NP_001341622.1:p.Leu456Ter
NM_001354694.2:c.1283T>A (RAF1)	NP_001341623.1:p.Leu428Ter
NM_001354695.2:c.1124T>A (RAF1)	NP_001341624.1:p.Leu375Ter
NR_148940.2:n.1910T>A (RAF1)
NR_148941.2:n.1856T>A (RAF1)
NR_148942.2:n.1795T>A (RAF1)
NM_001354690.3:c.1466T>A (RAF1)	NP_001341619.1:p.Leu489Ter
NM_001354691.3:c.1223T>A (RAF1)	NP_001341620.1:p.Leu408Ter
NM_001354692.3:c.1223T>A (RAF1)	NP_001341621.1:p.Leu408Ter
NM_001354693.3:c.1367T>A (RAF1)	NP_001341622.1:p.Leu456Ter
NM_001354694.3:c.1283T>A (RAF1)	NP_001341623.1:p.Leu428Ter
NM_001354695.3:c.1124T>A (RAF1)	NP_001341624.1:p.Leu375Ter
NM_002880.4:c.1466T>A (RAF1) MANE Select	NP_002871.1:p.Leu489Ter
NR_148940.3:n.1910T>A (RAF1)
NR_148941.3:n.1856T>A (RAF1)
NR_148942.3:n.1795T>A (RAF1)