Canonical Allele Identifier: CA351496823

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626432G>C (hg19) ; chr3:g.12584933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584933G>C , CM000665.2:g.12584933G>C	GRCh38
NC_000003.11:g.12626432G>C , CM000665.1:g.12626432G>C	GRCh37
NC_000003.10:g.12601432G>C	NCBI36
NG_007467.1:g.84247C>G , LRG_413:g.84247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1382C>G (RAF1)	ENSP00000401088.1:n.*1382C>G
ENST00000432427.3:c.1034C>G (RAF1)
ENST00000460610.2:n.6029C>G (RAF1)
ENST00000471449.2:n.527C>G (RAF1)
ENST00000475353.2:n.3997C>G (RAF1)
ENST00000684903.1:c.*1394C>G (RAF1)	ENSP00000508612.1:n.*1394C>G
ENST00000685348.1:c.*1428C>G (RAF1)	ENSP00000510285.1:n.*1428C>G
ENST00000685437.1:c.1618C>G (RAF1)	ENSP00000508794.1:p.Leu540Val
ENST00000685653.1:c.1717C>G (RAF1)	ENSP00000509968.1:p.Leu573Val
ENST00000685697.1:n.2452C>G (RAF1)
ENST00000685738.1:c.*681C>G (RAF1)	ENSP00000510156.1:n.*681C>G
ENST00000686409.1:n.5126C>G (RAF1)
ENST00000686455.1:n.4438C>G (RAF1)
ENST00000686762.1:c.*276C>G (RAF1)	ENSP00000509767.1:n.*276C>G
ENST00000687257.1:n.4171C>G (RAF1)
ENST00000687326.1:c.*3009C>G (RAF1)	ENSP00000509665.1:n.*3009C>G
ENST00000687505.1:n.1835C>G (RAF1)
ENST00000687923.1:c.1606C>G (RAF1)	ENSP00000510255.1:p.Leu536Val
ENST00000688269.1:n.2313C>G (RAF1)
ENST00000688444.1:n.3834C>G (RAF1)
ENST00000688543.1:c.1618C>G (RAF1)	ENSP00000509612.1:p.Leu540Val
ENST00000688625.1:c.*3086C>G (RAF1)	ENSP00000509522.1:n.*3086C>G
ENST00000688803.1:n.3145C>G (RAF1)
ENST00000688914.1:n.1130C>G (RAF1)
ENST00000689097.1:c.*1394C>G (RAF1)	ENSP00000509756.1:n.*1394C>G
ENST00000689389.1:c.1540C>G (RAF1)	ENSP00000510213.1:p.Leu514Val
ENST00000689418.1:c.*3612C>G (RAF1)	ENSP00000509467.1:n.*3612C>G
ENST00000689540.1:n.4085C>G (RAF1)
ENST00000689876.1:c.*266C>G (RAF1)	ENSP00000508535.1:n.*266C>G
ENST00000689914.1:c.*651C>G (RAF1)	ENSP00000509847.1:n.*651C>G
ENST00000690397.1:c.1606C>G (RAF1)	ENSP00000508730.1:p.Leu536Val
ENST00000690460.1:c.1705C>G (RAF1)	ENSP00000509106.1:p.Leu569Val
ENST00000690585.1:c.443C>G (RAF1)
ENST00000690625.1:n.2753C>G (RAF1)
ENST00000691396.1:c.*1589C>G (RAF1)	ENSP00000510712.1:n.*1589C>G
ENST00000691643.1:n.2770C>G (RAF1)
ENST00000691724.1:c.*674C>G (RAF1)	ENSP00000509255.1:n.*674C>G
ENST00000691779.1:c.*1295C>G (RAF1)	ENSP00000508592.1:n.*1295C>G
ENST00000691888.1:c.591C>G (RAF1)
ENST00000691899.1:c.1717C>G (RAF1)	ENSP00000508763.1:p.Leu573Val
ENST00000692069.1:n.4641C>G (RAF1)
ENST00000692093.1:c.1618C>G (RAF1)	ENSP00000509669.1:p.Leu540Val
ENST00000692311.1:n.2541C>G (RAF1)
ENST00000692558.1:n.4300C>G (RAF1)
ENST00000692773.1:c.*1454C>G (RAF1)	ENSP00000509055.1:n.*1454C>G
ENST00000692830.1:c.*1462C>G (RAF1)	ENSP00000509461.1:n.*1462C>G
ENST00000693312.1:c.1492C>G (RAF1)	ENSP00000508686.1:p.Leu498Val
ENST00000693664.1:c.*168C>G (RAF1)	ENSP00000509614.1:n.*168C>G
ENST00000693705.1:c.*1096C>G (RAF1)	ENSP00000510697.1:n.*1096C>G
ENST00000251849.9:c.1717C>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu573Val
ENST00000442415.7:c.1777C>G (RAF1)	ENSP00000401888.2:p.Leu593Val
ENST00000676541.1:c.*2680G>C (MKRN2)	ENSP00000503730.1:n.*2680G>C
ENST00000677142.1:c.*2680G>C (MKRN2)	ENSP00000504455.1:n.*2680G>C
ENST00000677816.1:c.*1235G>C (MKRN2)	ENSP00000502893.1:n.*1235G>C
ENST00000677941.1:n.2743G>C (MKRN2)
ENST00000251849.8:c.1717C>G (RAF1)	ENSP00000251849.4:p.Leu573Val
ENST00000423275.5:c.*1394C>G (RAF1)	ENSP00000401088.1:n.*1394C>G
ENST00000432427.2:c.1354C>G (RAF1)	ENSP00000398591.2:p.Leu452Val
ENST00000442415.6:c.1777C>G (RAF1)	ENSP00000401888.2:p.Leu593Val
ENST00000471449.1:n.406C>G (RAF1)
NM_002880.3:c.1717C>G , LRG_413t1:c.1717C>G (RAF1)	NP_002871.1:p.Leu573Val
XM_005265355.1:c.1717C>G (RAF1)	XP_005265412.1:p.Leu573Val
XM_005265357.1:c.1618C>G (RAF1)	XP_005265414.1:p.Leu540Val
XM_005265358.3:c.1474C>G (RAF1)	XP_005265415.1:p.Leu492Val
XM_005265359.3:c.1375C>G (RAF1)	XP_005265416.1:p.Leu459Val
XM_011533974.1:c.1717C>G (RAF1)	XP_011532276.1:p.Leu573Val
XM_011533975.1:c.1474C>G (RAF1)	XP_011532277.1:p.Leu492Val
NM_001354689.1:c.1777C>G (RAF1)	NP_001341618.1:p.Leu593Val
NM_001354690.1:c.1717C>G (RAF1)	NP_001341619.1:p.Leu573Val
NM_001354691.1:c.1474C>G (RAF1)	NP_001341620.1:p.Leu492Val
NM_001354692.1:c.1474C>G (RAF1)	NP_001341621.1:p.Leu492Val
NM_001354693.1:c.1618C>G (RAF1)	NP_001341622.1:p.Leu540Val
NM_001354694.1:c.1534C>G (RAF1)	NP_001341623.1:p.Leu512Val
NM_001354695.1:c.1375C>G (RAF1)	NP_001341624.1:p.Leu459Val
NR_148940.1:n.2245C>G (RAF1)
NR_148941.1:n.2191C>G (RAF1)
NR_148942.1:n.2130C>G (RAF1)
XM_011533974.3:c.1717C>G (RAF1)	XP_011532276.1:p.Leu573Val
XM_017006966.1:c.1618C>G (RAF1)	XP_016862455.1:p.Leu540Val
NM_001354689.3:c.1777C>G (RAF1)	NP_001341618.1:p.Leu593Val
NM_001354690.2:c.1717C>G (RAF1)	NP_001341619.1:p.Leu573Val
NM_001354691.2:c.1474C>G (RAF1)	NP_001341620.1:p.Leu492Val
NM_001354692.2:c.1474C>G (RAF1)	NP_001341621.1:p.Leu492Val
NM_001354693.2:c.1618C>G (RAF1)	NP_001341622.1:p.Leu540Val
NM_001354694.2:c.1534C>G (RAF1)	NP_001341623.1:p.Leu512Val
NM_001354695.2:c.1375C>G (RAF1)	NP_001341624.1:p.Leu459Val
NR_148940.2:n.2161C>G (RAF1)
NR_148941.2:n.2107C>G (RAF1)
NR_148942.2:n.2046C>G (RAF1)
NM_001354690.3:c.1717C>G (RAF1)	NP_001341619.1:p.Leu573Val
NM_001354691.3:c.1474C>G (RAF1)	NP_001341620.1:p.Leu492Val
NM_001354692.3:c.1474C>G (RAF1)	NP_001341621.1:p.Leu492Val
NM_001354693.3:c.1618C>G (RAF1)	NP_001341622.1:p.Leu540Val
NM_001354694.3:c.1534C>G (RAF1)	NP_001341623.1:p.Leu512Val
NM_001354695.3:c.1375C>G (RAF1)	NP_001341624.1:p.Leu459Val
NM_002880.4:c.1717C>G (RAF1) MANE Select	NP_002871.1:p.Leu573Val
NR_148940.3:n.2161C>G (RAF1)
NR_148941.3:n.2107C>G (RAF1)
NR_148942.3:n.2046C>G (RAF1)