Canonical Allele Identifier: CA351499123

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 981600
• ClinVar RCV Id: RCV001261137 ; RCV002541574
• MyVariant Identifiers: chr3:g.12627250A>G (hg19) ; chr3:g.12585751A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1131T>C (RAF1)	ENSP00000401088.1:n.*1131T>C
ENST00000432427.3:c.783T>C (RAF1)
ENST00000460610.2:n.5211T>C (RAF1)
ENST00000471449.2:n.276T>C (RAF1)
ENST00000475353.2:n.3179T>C (RAF1)
ENST00000684903.1:c.*1143T>C (RAF1)	ENSP00000508612.1:n.*1143T>C
ENST00000685348.1:c.*1095-345T>C (RAF1)	ENSP00000510285.1:n.*1095-345T>C
ENST00000685437.1:c.1367T>C (RAF1)	ENSP00000508794.1:p.Leu456Ser
ENST00000685653.1:c.1466T>C (RAF1)	ENSP00000509968.1:p.Leu489Ser
ENST00000685697.1:n.2201T>C (RAF1)
ENST00000685738.1:c.*430T>C (RAF1)	ENSP00000510156.1:n.*430T>C
ENST00000686409.1:n.4308T>C (RAF1)
ENST00000686455.1:n.3620T>C (RAF1)
ENST00000686762.1:c.*25T>C (RAF1)	ENSP00000509767.1:n.*25T>C
ENST00000687257.1:n.3493T>C (RAF1)
ENST00000687326.1:c.*2191T>C (RAF1)	ENSP00000509665.1:n.*2191T>C
ENST00000687505.1:n.1584T>C (RAF1)
ENST00000687923.1:c.1355T>C (RAF1)	ENSP00000510255.1:p.Leu452Ser
ENST00000688269.1:n.2062T>C (RAF1)
ENST00000688444.1:n.3583T>C (RAF1)
ENST00000688543.1:c.1367T>C (RAF1)	ENSP00000509612.1:p.Leu456Ser
ENST00000688625.1:c.*2835T>C (RAF1)	ENSP00000509522.1:n.*2835T>C
ENST00000688803.1:n.2965-498T>C (RAF1)
ENST00000688914.1:n.452T>C (RAF1)
ENST00000689097.1:c.*1143T>C (RAF1)	ENSP00000509756.1:n.*1143T>C
ENST00000689389.1:c.1289T>C (RAF1)	ENSP00000510213.1:p.Leu430Ser
ENST00000689418.1:c.*2934T>C (RAF1)	ENSP00000509467.1:n.*2934T>C
ENST00000689540.1:n.3407T>C (RAF1)
ENST00000689876.1:c.1418-345T>C (RAF1)	ENSP00000508535.1:n.1418-345T>C
ENST00000689914.1:c.*400T>C (RAF1)	ENSP00000509847.1:n.*400T>C
ENST00000690397.1:c.1355T>C (RAF1)	ENSP00000508730.1:p.Leu452Ser
ENST00000690460.1:c.1454T>C (RAF1)	ENSP00000509106.1:p.Leu485Ser
ENST00000690585.1:c.263-498T>C (RAF1)
ENST00000690625.1:n.2502T>C (RAF1)
ENST00000691396.1:c.*1338T>C (RAF1)	ENSP00000510712.1:n.*1338T>C
ENST00000691643.1:n.2092T>C (RAF1)
ENST00000691724.1:c.*423T>C (RAF1)	ENSP00000509255.1:n.*423T>C
ENST00000691779.1:c.*1044T>C (RAF1)	ENSP00000508592.1:n.*1044T>C
ENST00000691888.1:c.340T>C (RAF1)
ENST00000691899.1:c.1466T>C (RAF1)	ENSP00000508763.1:p.Leu489Ser
ENST00000692069.1:n.3823T>C (RAF1)
ENST00000692093.1:c.1367T>C (RAF1)	ENSP00000509669.1:p.Leu456Ser
ENST00000692311.1:n.2290T>C (RAF1)
ENST00000692558.1:n.3622T>C (RAF1)
ENST00000692773.1:c.*1203T>C (RAF1)	ENSP00000509055.1:n.*1203T>C
ENST00000692830.1:c.*1211T>C (RAF1)	ENSP00000509461.1:n.*1211T>C
ENST00000693312.1:c.1241T>C (RAF1)	ENSP00000508686.1:p.Leu414Ser
ENST00000693664.1:c.1488-498T>C (RAF1)	ENSP00000509614.1:n.1488-498T>C
ENST00000693705.1:c.*1048-770T>C (RAF1)	ENSP00000510697.1:n.*1048-770T>C
ENST00000251849.9:c.1466T>C (RAF1) MANE Select	ENSP00000251849.4:p.Leu489Ser
ENST00000442415.7:c.1526T>C (RAF1)	ENSP00000401888.2:p.Leu509Ser
ENST00000676541.1:c.*3498A>G (MKRN2)	ENSP00000503730.1:n.*3498A>G
ENST00000677142.1:c.*3498A>G (MKRN2)	ENSP00000504455.1:n.*3498A>G
ENST00000677816.1:c.*2053A>G (MKRN2)	ENSP00000502893.1:n.*2053A>G
ENST00000677941.1:n.3561A>G (MKRN2)
ENST00000251849.8:c.1466T>C (RAF1)	ENSP00000251849.4:p.Leu489Ser
ENST00000423275.5:c.*1143T>C (RAF1)	ENSP00000401088.1:n.*1143T>C
ENST00000432427.2:c.1103T>C (RAF1)	ENSP00000398591.2:p.Leu368Ser
ENST00000442415.6:c.1526T>C (RAF1)	ENSP00000401888.2:p.Leu509Ser
ENST00000471449.1:n.155T>C (RAF1)
NM_002880.3:c.1466T>C , LRG_413t1:c.1466T>C (RAF1)	NP_002871.1:p.Leu489Ser
XM_005265355.1:c.1466T>C (RAF1)	XP_005265412.1:p.Leu489Ser
XM_005265357.1:c.1367T>C (RAF1)	XP_005265414.1:p.Leu456Ser
XM_005265358.3:c.1223T>C (RAF1)	XP_005265415.1:p.Leu408Ser
XM_005265359.3:c.1124T>C (RAF1)	XP_005265416.1:p.Leu375Ser
XM_005265360.1:c.1418-345T>C (RAF1)	XP_005265417.1:n.1418-345T>C
XM_011533974.1:c.1466T>C (RAF1)	XP_011532276.1:p.Leu489Ser
XM_011533975.1:c.1223T>C (RAF1)	XP_011532277.1:p.Leu408Ser
NM_001354689.1:c.1526T>C (RAF1)	NP_001341618.1:p.Leu509Ser
NM_001354690.1:c.1466T>C (RAF1)	NP_001341619.1:p.Leu489Ser
NM_001354691.1:c.1223T>C (RAF1)	NP_001341620.1:p.Leu408Ser
NM_001354692.1:c.1223T>C (RAF1)	NP_001341621.1:p.Leu408Ser
NM_001354693.1:c.1367T>C (RAF1)	NP_001341622.1:p.Leu456Ser
NM_001354694.1:c.1283T>C (RAF1)	NP_001341623.1:p.Leu428Ser
NM_001354695.1:c.1124T>C (RAF1)	NP_001341624.1:p.Leu375Ser
NR_148940.1:n.1994T>C (RAF1)
NR_148941.1:n.1940T>C (RAF1)
NR_148942.1:n.1879T>C (RAF1)
XM_011533974.3:c.1466T>C (RAF1)	XP_011532276.1:p.Leu489Ser
XM_017006966.1:c.1367T>C (RAF1)	XP_016862455.1:p.Leu456Ser
NM_001354689.3:c.1526T>C (RAF1)	NP_001341618.1:p.Leu509Ser
NM_001354690.2:c.1466T>C (RAF1)	NP_001341619.1:p.Leu489Ser
NM_001354691.2:c.1223T>C (RAF1)	NP_001341620.1:p.Leu408Ser
NM_001354692.2:c.1223T>C (RAF1)	NP_001341621.1:p.Leu408Ser
NM_001354693.2:c.1367T>C (RAF1)	NP_001341622.1:p.Leu456Ser
NM_001354694.2:c.1283T>C (RAF1)	NP_001341623.1:p.Leu428Ser
NM_001354695.2:c.1124T>C (RAF1)	NP_001341624.1:p.Leu375Ser
NR_148940.2:n.1910T>C (RAF1)
NR_148941.2:n.1856T>C (RAF1)
NR_148942.2:n.1795T>C (RAF1)
NM_001354690.3:c.1466T>C (RAF1)	NP_001341619.1:p.Leu489Ser
NM_001354691.3:c.1223T>C (RAF1)	NP_001341620.1:p.Leu408Ser
NM_001354692.3:c.1223T>C (RAF1)	NP_001341621.1:p.Leu408Ser
NM_001354693.3:c.1367T>C (RAF1)	NP_001341622.1:p.Leu456Ser
NM_001354694.3:c.1283T>C (RAF1)	NP_001341623.1:p.Leu428Ser
NM_001354695.3:c.1124T>C (RAF1)	NP_001341624.1:p.Leu375Ser
NM_002880.4:c.1466T>C (RAF1) MANE Select	NP_002871.1:p.Leu489Ser
NR_148940.3:n.1910T>C (RAF1)
NR_148941.3:n.1856T>C (RAF1)
NR_148942.3:n.1795T>C (RAF1)