Canonical Allele Identifier: CA351499217

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627275T>C (hg19) ; chr3:g.12585776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585776T>C , CM000665.2:g.12585776T>C	GRCh38
NC_000003.11:g.12627275T>C , CM000665.1:g.12627275T>C	GRCh37
NC_000003.10:g.12602275T>C	NCBI36
NG_007467.1:g.83404A>G , LRG_413:g.83404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1106A>G (RAF1)	ENSP00000401088.1:n.*1106A>G
ENST00000432427.3:c.758A>G (RAF1)
ENST00000460610.2:n.5186A>G (RAF1)
ENST00000471449.2:n.251A>G (RAF1)
ENST00000475353.2:n.3154A>G (RAF1)
ENST00000684903.1:c.*1118A>G (RAF1)	ENSP00000508612.1:n.*1118A>G
ENST00000685348.1:c.*1095-370A>G (RAF1)	ENSP00000510285.1:n.*1095-370A>G
ENST00000685437.1:c.1342A>G (RAF1)	ENSP00000508794.1:p.Thr448Ala
ENST00000685653.1:c.1441A>G (RAF1)	ENSP00000509968.1:p.Thr481Ala
ENST00000685697.1:n.2176A>G (RAF1)
ENST00000685738.1:c.*405A>G (RAF1)	ENSP00000510156.1:n.*405A>G
ENST00000686409.1:n.4283A>G (RAF1)
ENST00000686455.1:n.3595A>G (RAF1)
ENST00000686762.1:c.1461A>G (RAF1)	ENSP00000509767.1:p.Ter487=
ENST00000687257.1:n.3468A>G (RAF1)
ENST00000687326.1:c.*2166A>G (RAF1)	ENSP00000509665.1:n.*2166A>G
ENST00000687505.1:n.1559A>G (RAF1)
ENST00000687923.1:c.1330A>G (RAF1)	ENSP00000510255.1:p.Thr444Ala
ENST00000688269.1:n.2037A>G (RAF1)
ENST00000688444.1:n.3558A>G (RAF1)
ENST00000688543.1:c.1342A>G (RAF1)	ENSP00000509612.1:p.Thr448Ala
ENST00000688625.1:c.*2810A>G (RAF1)	ENSP00000509522.1:n.*2810A>G
ENST00000688803.1:n.2964+499A>G (RAF1)
ENST00000688914.1:n.427A>G (RAF1)
ENST00000689097.1:c.*1118A>G (RAF1)	ENSP00000509756.1:n.*1118A>G
ENST00000689389.1:c.1264A>G (RAF1)	ENSP00000510213.1:p.Thr422Ala
ENST00000689418.1:c.*2909A>G (RAF1)	ENSP00000509467.1:n.*2909A>G
ENST00000689540.1:n.3382A>G (RAF1)
ENST00000689876.1:c.1418-370A>G (RAF1)	ENSP00000508535.1:n.1418-370A>G
ENST00000689914.1:c.*375A>G (RAF1)	ENSP00000509847.1:n.*375A>G
ENST00000690397.1:c.1330A>G (RAF1)	ENSP00000508730.1:p.Thr444Ala
ENST00000690460.1:c.1429A>G (RAF1)	ENSP00000509106.1:p.Thr477Ala
ENST00000690585.1:c.263-523A>G (RAF1)
ENST00000690625.1:n.2477A>G (RAF1)
ENST00000691396.1:c.*1313A>G (RAF1)	ENSP00000510712.1:n.*1313A>G
ENST00000691643.1:n.2067A>G (RAF1)
ENST00000691724.1:c.*398A>G (RAF1)	ENSP00000509255.1:n.*398A>G
ENST00000691779.1:c.*1019A>G (RAF1)	ENSP00000508592.1:n.*1019A>G
ENST00000691888.1:c.315A>G (RAF1)
ENST00000691899.1:c.1441A>G (RAF1)	ENSP00000508763.1:p.Thr481Ala
ENST00000692069.1:n.3798A>G (RAF1)
ENST00000692093.1:c.1342A>G (RAF1)	ENSP00000509669.1:p.Thr448Ala
ENST00000692311.1:n.2265A>G (RAF1)
ENST00000692558.1:n.3597A>G (RAF1)
ENST00000692773.1:c.*1178A>G (RAF1)	ENSP00000509055.1:n.*1178A>G
ENST00000692830.1:c.*1186A>G (RAF1)	ENSP00000509461.1:n.*1186A>G
ENST00000693312.1:c.1216A>G (RAF1)	ENSP00000508686.1:p.Thr406Ala
ENST00000693664.1:c.1487+499A>G (RAF1)	ENSP00000509614.1:n.1487+499A>G
ENST00000693705.1:c.*1048-795A>G (RAF1)	ENSP00000510697.1:n.*1048-795A>G
ENST00000251849.9:c.1441A>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr481Ala
ENST00000442415.7:c.1501A>G (RAF1)	ENSP00000401888.2:p.Thr501Ala
ENST00000676541.1:c.*3523T>C (MKRN2)	ENSP00000503730.1:n.*3523T>C
ENST00000677142.1:c.*3523T>C (MKRN2)	ENSP00000504455.1:n.*3523T>C
ENST00000677816.1:c.*2078T>C (MKRN2)	ENSP00000502893.1:n.*2078T>C
ENST00000677941.1:n.3586T>C (MKRN2)
ENST00000251849.8:c.1441A>G (RAF1)	ENSP00000251849.4:p.Thr481Ala
ENST00000423275.5:c.*1118A>G (RAF1)	ENSP00000401088.1:n.*1118A>G
ENST00000432427.2:c.1078A>G (RAF1)	ENSP00000398591.2:p.Thr360Ala
ENST00000442415.6:c.1501A>G (RAF1)	ENSP00000401888.2:p.Thr501Ala
ENST00000471449.1:n.130A>G (RAF1)
NM_002880.3:c.1441A>G , LRG_413t1:c.1441A>G (RAF1)	NP_002871.1:p.Thr481Ala
XM_005265355.1:c.1441A>G (RAF1)	XP_005265412.1:p.Thr481Ala
XM_005265357.1:c.1342A>G (RAF1)	XP_005265414.1:p.Thr448Ala
XM_005265358.3:c.1198A>G (RAF1)	XP_005265415.1:p.Thr400Ala
XM_005265359.3:c.1099A>G (RAF1)	XP_005265416.1:p.Thr367Ala
XM_005265360.1:c.1418-370A>G (RAF1)	XP_005265417.1:n.1418-370A>G
XM_011533974.1:c.1441A>G (RAF1)	XP_011532276.1:p.Thr481Ala
XM_011533975.1:c.1198A>G (RAF1)	XP_011532277.1:p.Thr400Ala
NM_001354689.1:c.1501A>G (RAF1)	NP_001341618.1:p.Thr501Ala
NM_001354690.1:c.1441A>G (RAF1)	NP_001341619.1:p.Thr481Ala
NM_001354691.1:c.1198A>G (RAF1)	NP_001341620.1:p.Thr400Ala
NM_001354692.1:c.1198A>G (RAF1)	NP_001341621.1:p.Thr400Ala
NM_001354693.1:c.1342A>G (RAF1)	NP_001341622.1:p.Thr448Ala
NM_001354694.1:c.1258A>G (RAF1)	NP_001341623.1:p.Thr420Ala
NM_001354695.1:c.1099A>G (RAF1)	NP_001341624.1:p.Thr367Ala
NR_148940.1:n.1969A>G (RAF1)
NR_148941.1:n.1915A>G (RAF1)
NR_148942.1:n.1854A>G (RAF1)
XM_011533974.3:c.1441A>G (RAF1)	XP_011532276.1:p.Thr481Ala
XM_017006966.1:c.1342A>G (RAF1)	XP_016862455.1:p.Thr448Ala
NM_001354689.3:c.1501A>G (RAF1)	NP_001341618.1:p.Thr501Ala
NM_001354690.2:c.1441A>G (RAF1)	NP_001341619.1:p.Thr481Ala
NM_001354691.2:c.1198A>G (RAF1)	NP_001341620.1:p.Thr400Ala
NM_001354692.2:c.1198A>G (RAF1)	NP_001341621.1:p.Thr400Ala
NM_001354693.2:c.1342A>G (RAF1)	NP_001341622.1:p.Thr448Ala
NM_001354694.2:c.1258A>G (RAF1)	NP_001341623.1:p.Thr420Ala
NM_001354695.2:c.1099A>G (RAF1)	NP_001341624.1:p.Thr367Ala
NR_148940.2:n.1885A>G (RAF1)
NR_148941.2:n.1831A>G (RAF1)
NR_148942.2:n.1770A>G (RAF1)
NM_001354690.3:c.1441A>G (RAF1)	NP_001341619.1:p.Thr481Ala
NM_001354691.3:c.1198A>G (RAF1)	NP_001341620.1:p.Thr400Ala
NM_001354692.3:c.1198A>G (RAF1)	NP_001341621.1:p.Thr400Ala
NM_001354693.3:c.1342A>G (RAF1)	NP_001341622.1:p.Thr448Ala
NM_001354694.3:c.1258A>G (RAF1)	NP_001341623.1:p.Thr420Ala
NM_001354695.3:c.1099A>G (RAF1)	NP_001341624.1:p.Thr367Ala
NM_002880.4:c.1441A>G (RAF1) MANE Select	NP_002871.1:p.Thr481Ala
NR_148940.3:n.1885A>G (RAF1)
NR_148941.3:n.1831A>G (RAF1)
NR_148942.3:n.1770A>G (RAF1)