Canonical Allele Identifier: CA351496763

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125319692
• MyVariant Identifiers: chr3:g.12626419C>A (hg19) ; chr3:g.12584920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584920C>A , CM000665.2:g.12584920C>A	GRCh38
NC_000003.11:g.12626419C>A , CM000665.1:g.12626419C>A	GRCh37
NC_000003.10:g.12601419C>A	NCBI36
NG_007467.1:g.84260G>T , LRG_413:g.84260G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1395G>T (RAF1)	ENSP00000401088.1:n.*1395G>T
ENST00000432427.3:c.1047G>T (RAF1)
ENST00000460610.2:n.6042G>T (RAF1)
ENST00000471449.2:n.540G>T (RAF1)
ENST00000475353.2:n.4010G>T (RAF1)
ENST00000684903.1:c.*1407G>T (RAF1)	ENSP00000508612.1:n.*1407G>T
ENST00000685348.1:c.*1441G>T (RAF1)	ENSP00000510285.1:n.*1441G>T
ENST00000685437.1:c.1631G>T (RAF1)	ENSP00000508794.1:p.Cys544Phe
ENST00000685653.1:c.1730G>T (RAF1)	ENSP00000509968.1:p.Cys577Phe
ENST00000685697.1:n.2465G>T (RAF1)
ENST00000685738.1:c.*694G>T (RAF1)	ENSP00000510156.1:n.*694G>T
ENST00000686409.1:n.5139G>T (RAF1)
ENST00000686455.1:n.4451G>T (RAF1)
ENST00000686762.1:c.*289G>T (RAF1)	ENSP00000509767.1:n.*289G>T
ENST00000687257.1:n.4184G>T (RAF1)
ENST00000687326.1:c.*3022G>T (RAF1)	ENSP00000509665.1:n.*3022G>T
ENST00000687505.1:n.1848G>T (RAF1)
ENST00000687923.1:c.1619G>T (RAF1)	ENSP00000510255.1:p.Cys540Phe
ENST00000688269.1:n.2326G>T (RAF1)
ENST00000688444.1:n.3847G>T (RAF1)
ENST00000688543.1:c.1631G>T (RAF1)	ENSP00000509612.1:p.Cys544Phe
ENST00000688625.1:c.*3099G>T (RAF1)	ENSP00000509522.1:n.*3099G>T
ENST00000688803.1:n.3158G>T (RAF1)
ENST00000688914.1:n.1143G>T (RAF1)
ENST00000689097.1:c.*1407G>T (RAF1)	ENSP00000509756.1:n.*1407G>T
ENST00000689389.1:c.1553G>T (RAF1)	ENSP00000510213.1:p.Cys518Phe
ENST00000689418.1:c.*3625G>T (RAF1)	ENSP00000509467.1:n.*3625G>T
ENST00000689540.1:n.4098G>T (RAF1)
ENST00000689876.1:c.*279G>T (RAF1)	ENSP00000508535.1:n.*279G>T
ENST00000689914.1:c.*664G>T (RAF1)	ENSP00000509847.1:n.*664G>T
ENST00000690397.1:c.1619G>T (RAF1)	ENSP00000508730.1:p.Cys540Phe
ENST00000690460.1:c.1718G>T (RAF1)	ENSP00000509106.1:p.Cys573Phe
ENST00000690585.1:c.456G>T (RAF1)
ENST00000690625.1:n.2766G>T (RAF1)
ENST00000691396.1:c.*1602G>T (RAF1)	ENSP00000510712.1:n.*1602G>T
ENST00000691643.1:n.2783G>T (RAF1)
ENST00000691724.1:c.*687G>T (RAF1)	ENSP00000509255.1:n.*687G>T
ENST00000691779.1:c.*1308G>T (RAF1)	ENSP00000508592.1:n.*1308G>T
ENST00000691888.1:c.604G>T (RAF1)
ENST00000691899.1:c.1730G>T (RAF1)	ENSP00000508763.1:p.Cys577Phe
ENST00000692069.1:n.4654G>T (RAF1)
ENST00000692093.1:c.1631G>T (RAF1)	ENSP00000509669.1:p.Cys544Phe
ENST00000692311.1:n.2554G>T (RAF1)
ENST00000692558.1:n.4313G>T (RAF1)
ENST00000692773.1:c.*1467G>T (RAF1)	ENSP00000509055.1:n.*1467G>T
ENST00000692830.1:c.*1475G>T (RAF1)	ENSP00000509461.1:n.*1475G>T
ENST00000693312.1:c.1505G>T (RAF1)	ENSP00000508686.1:p.Cys502Phe
ENST00000693664.1:c.*181G>T (RAF1)	ENSP00000509614.1:n.*181G>T
ENST00000693705.1:c.*1109G>T (RAF1)	ENSP00000510697.1:n.*1109G>T
ENST00000251849.9:c.1730G>T (RAF1) MANE Select	ENSP00000251849.4:p.Cys577Phe
ENST00000442415.7:c.1790G>T (RAF1)	ENSP00000401888.2:p.Cys597Phe
ENST00000676541.1:c.*2667C>A (MKRN2)	ENSP00000503730.1:n.*2667C>A
ENST00000677142.1:c.*2667C>A (MKRN2)	ENSP00000504455.1:n.*2667C>A
ENST00000677816.1:c.*1222C>A (MKRN2)	ENSP00000502893.1:n.*1222C>A
ENST00000677941.1:n.2730C>A (MKRN2)
ENST00000251849.8:c.1730G>T (RAF1)	ENSP00000251849.4:p.Cys577Phe
ENST00000423275.5:c.*1407G>T (RAF1)	ENSP00000401088.1:n.*1407G>T
ENST00000432427.2:c.1367G>T (RAF1)	ENSP00000398591.2:p.Cys456Phe
ENST00000442415.6:c.1790G>T (RAF1)	ENSP00000401888.2:p.Cys597Phe
ENST00000471449.1:n.419G>T (RAF1)
NM_002880.3:c.1730G>T , LRG_413t1:c.1730G>T (RAF1)	NP_002871.1:p.Cys577Phe
XM_005265355.1:c.1730G>T (RAF1)	XP_005265412.1:p.Cys577Phe
XM_005265357.1:c.1631G>T (RAF1)	XP_005265414.1:p.Cys544Phe
XM_005265358.3:c.1487G>T (RAF1)	XP_005265415.1:p.Cys496Phe
XM_005265359.3:c.1388G>T (RAF1)	XP_005265416.1:p.Cys463Phe
XM_011533974.1:c.1730G>T (RAF1)	XP_011532276.1:p.Cys577Phe
XM_011533975.1:c.1487G>T (RAF1)	XP_011532277.1:p.Cys496Phe
NM_001354689.1:c.1790G>T (RAF1)	NP_001341618.1:p.Cys597Phe
NM_001354690.1:c.1730G>T (RAF1)	NP_001341619.1:p.Cys577Phe
NM_001354691.1:c.1487G>T (RAF1)	NP_001341620.1:p.Cys496Phe
NM_001354692.1:c.1487G>T (RAF1)	NP_001341621.1:p.Cys496Phe
NM_001354693.1:c.1631G>T (RAF1)	NP_001341622.1:p.Cys544Phe
NM_001354694.1:c.1547G>T (RAF1)	NP_001341623.1:p.Cys516Phe
NM_001354695.1:c.1388G>T (RAF1)	NP_001341624.1:p.Cys463Phe
NR_148940.1:n.2258G>T (RAF1)
NR_148941.1:n.2204G>T (RAF1)
NR_148942.1:n.2143G>T (RAF1)
XM_011533974.3:c.1730G>T (RAF1)	XP_011532276.1:p.Cys577Phe
XM_017006966.1:c.1631G>T (RAF1)	XP_016862455.1:p.Cys544Phe
NM_001354689.3:c.1790G>T (RAF1)	NP_001341618.1:p.Cys597Phe
NM_001354690.2:c.1730G>T (RAF1)	NP_001341619.1:p.Cys577Phe
NM_001354691.2:c.1487G>T (RAF1)	NP_001341620.1:p.Cys496Phe
NM_001354692.2:c.1487G>T (RAF1)	NP_001341621.1:p.Cys496Phe
NM_001354693.2:c.1631G>T (RAF1)	NP_001341622.1:p.Cys544Phe
NM_001354694.2:c.1547G>T (RAF1)	NP_001341623.1:p.Cys516Phe
NM_001354695.2:c.1388G>T (RAF1)	NP_001341624.1:p.Cys463Phe
NR_148940.2:n.2174G>T (RAF1)
NR_148941.2:n.2120G>T (RAF1)
NR_148942.2:n.2059G>T (RAF1)
NM_001354690.3:c.1730G>T (RAF1)	NP_001341619.1:p.Cys577Phe
NM_001354691.3:c.1487G>T (RAF1)	NP_001341620.1:p.Cys496Phe
NM_001354692.3:c.1487G>T (RAF1)	NP_001341621.1:p.Cys496Phe
NM_001354693.3:c.1631G>T (RAF1)	NP_001341622.1:p.Cys544Phe
NM_001354694.3:c.1547G>T (RAF1)	NP_001341623.1:p.Cys516Phe
NM_001354695.3:c.1388G>T (RAF1)	NP_001341624.1:p.Cys463Phe
NM_002880.4:c.1730G>T (RAF1) MANE Select	NP_002871.1:p.Cys577Phe
NR_148940.3:n.2174G>T (RAF1)
NR_148941.3:n.2120G>T (RAF1)
NR_148942.3:n.2059G>T (RAF1)