Canonical Allele Identifier: CA351499126

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125326198
• MyVariant Identifiers: chr3:g.12627251A>C (hg19) ; chr3:g.12585752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585752A>C , CM000665.2:g.12585752A>C	GRCh38
NC_000003.11:g.12627251A>C , CM000665.1:g.12627251A>C	GRCh37
NC_000003.10:g.12602251A>C	NCBI36
NG_007467.1:g.83428T>G , LRG_413:g.83428T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1130T>G (RAF1)	ENSP00000401088.1:n.*1130T>G
ENST00000432427.3:c.782T>G (RAF1)
ENST00000460610.2:n.5210T>G (RAF1)
ENST00000471449.2:n.275T>G (RAF1)
ENST00000475353.2:n.3178T>G (RAF1)
ENST00000684903.1:c.*1142T>G (RAF1)	ENSP00000508612.1:n.*1142T>G
ENST00000685348.1:c.*1095-346T>G (RAF1)	ENSP00000510285.1:n.*1095-346T>G
ENST00000685437.1:c.1366T>G (RAF1)	ENSP00000508794.1:p.Leu456Val
ENST00000685653.1:c.1465T>G (RAF1)	ENSP00000509968.1:p.Leu489Val
ENST00000685697.1:n.2200T>G (RAF1)
ENST00000685738.1:c.*429T>G (RAF1)	ENSP00000510156.1:n.*429T>G
ENST00000686409.1:n.4307T>G (RAF1)
ENST00000686455.1:n.3619T>G (RAF1)
ENST00000686762.1:c.*24T>G (RAF1)	ENSP00000509767.1:n.*24T>G
ENST00000687257.1:n.3492T>G (RAF1)
ENST00000687326.1:c.*2190T>G (RAF1)	ENSP00000509665.1:n.*2190T>G
ENST00000687505.1:n.1583T>G (RAF1)
ENST00000687923.1:c.1354T>G (RAF1)	ENSP00000510255.1:p.Leu452Val
ENST00000688269.1:n.2061T>G (RAF1)
ENST00000688444.1:n.3582T>G (RAF1)
ENST00000688543.1:c.1366T>G (RAF1)	ENSP00000509612.1:p.Leu456Val
ENST00000688625.1:c.*2834T>G (RAF1)	ENSP00000509522.1:n.*2834T>G
ENST00000688803.1:n.2965-499T>G (RAF1)
ENST00000688914.1:n.451T>G (RAF1)
ENST00000689097.1:c.*1142T>G (RAF1)	ENSP00000509756.1:n.*1142T>G
ENST00000689389.1:c.1288T>G (RAF1)	ENSP00000510213.1:p.Leu430Val
ENST00000689418.1:c.*2933T>G (RAF1)	ENSP00000509467.1:n.*2933T>G
ENST00000689540.1:n.3406T>G (RAF1)
ENST00000689876.1:c.1418-346T>G (RAF1)	ENSP00000508535.1:n.1418-346T>G
ENST00000689914.1:c.*399T>G (RAF1)	ENSP00000509847.1:n.*399T>G
ENST00000690397.1:c.1354T>G (RAF1)	ENSP00000508730.1:p.Leu452Val
ENST00000690460.1:c.1453T>G (RAF1)	ENSP00000509106.1:p.Leu485Val
ENST00000690585.1:c.263-499T>G (RAF1)
ENST00000690625.1:n.2501T>G (RAF1)
ENST00000691396.1:c.*1337T>G (RAF1)	ENSP00000510712.1:n.*1337T>G
ENST00000691643.1:n.2091T>G (RAF1)
ENST00000691724.1:c.*422T>G (RAF1)	ENSP00000509255.1:n.*422T>G
ENST00000691779.1:c.*1043T>G (RAF1)	ENSP00000508592.1:n.*1043T>G
ENST00000691888.1:c.339T>G (RAF1)
ENST00000691899.1:c.1465T>G (RAF1)	ENSP00000508763.1:p.Leu489Val
ENST00000692069.1:n.3822T>G (RAF1)
ENST00000692093.1:c.1366T>G (RAF1)	ENSP00000509669.1:p.Leu456Val
ENST00000692311.1:n.2289T>G (RAF1)
ENST00000692558.1:n.3621T>G (RAF1)
ENST00000692773.1:c.*1202T>G (RAF1)	ENSP00000509055.1:n.*1202T>G
ENST00000692830.1:c.*1210T>G (RAF1)	ENSP00000509461.1:n.*1210T>G
ENST00000693312.1:c.1240T>G (RAF1)	ENSP00000508686.1:p.Leu414Val
ENST00000693664.1:c.1488-499T>G (RAF1)	ENSP00000509614.1:n.1488-499T>G
ENST00000693705.1:c.*1048-771T>G (RAF1)	ENSP00000510697.1:n.*1048-771T>G
ENST00000251849.9:c.1465T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu489Val
ENST00000442415.7:c.1525T>G (RAF1)	ENSP00000401888.2:p.Leu509Val
ENST00000676541.1:c.*3499A>C (MKRN2)	ENSP00000503730.1:n.*3499A>C
ENST00000677142.1:c.*3499A>C (MKRN2)	ENSP00000504455.1:n.*3499A>C
ENST00000677816.1:c.*2054A>C (MKRN2)	ENSP00000502893.1:n.*2054A>C
ENST00000677941.1:n.3562A>C (MKRN2)
ENST00000251849.8:c.1465T>G (RAF1)	ENSP00000251849.4:p.Leu489Val
ENST00000423275.5:c.*1142T>G (RAF1)	ENSP00000401088.1:n.*1142T>G
ENST00000432427.2:c.1102T>G (RAF1)	ENSP00000398591.2:p.Leu368Val
ENST00000442415.6:c.1525T>G (RAF1)	ENSP00000401888.2:p.Leu509Val
ENST00000471449.1:n.154T>G (RAF1)
NM_002880.3:c.1465T>G , LRG_413t1:c.1465T>G (RAF1)	NP_002871.1:p.Leu489Val
XM_005265355.1:c.1465T>G (RAF1)	XP_005265412.1:p.Leu489Val
XM_005265357.1:c.1366T>G (RAF1)	XP_005265414.1:p.Leu456Val
XM_005265358.3:c.1222T>G (RAF1)	XP_005265415.1:p.Leu408Val
XM_005265359.3:c.1123T>G (RAF1)	XP_005265416.1:p.Leu375Val
XM_005265360.1:c.1418-346T>G (RAF1)	XP_005265417.1:n.1418-346T>G
XM_011533974.1:c.1465T>G (RAF1)	XP_011532276.1:p.Leu489Val
XM_011533975.1:c.1222T>G (RAF1)	XP_011532277.1:p.Leu408Val
NM_001354689.1:c.1525T>G (RAF1)	NP_001341618.1:p.Leu509Val
NM_001354690.1:c.1465T>G (RAF1)	NP_001341619.1:p.Leu489Val
NM_001354691.1:c.1222T>G (RAF1)	NP_001341620.1:p.Leu408Val
NM_001354692.1:c.1222T>G (RAF1)	NP_001341621.1:p.Leu408Val
NM_001354693.1:c.1366T>G (RAF1)	NP_001341622.1:p.Leu456Val
NM_001354694.1:c.1282T>G (RAF1)	NP_001341623.1:p.Leu428Val
NM_001354695.1:c.1123T>G (RAF1)	NP_001341624.1:p.Leu375Val
NR_148940.1:n.1993T>G (RAF1)
NR_148941.1:n.1939T>G (RAF1)
NR_148942.1:n.1878T>G (RAF1)
XM_011533974.3:c.1465T>G (RAF1)	XP_011532276.1:p.Leu489Val
XM_017006966.1:c.1366T>G (RAF1)	XP_016862455.1:p.Leu456Val
NM_001354689.3:c.1525T>G (RAF1)	NP_001341618.1:p.Leu509Val
NM_001354690.2:c.1465T>G (RAF1)	NP_001341619.1:p.Leu489Val
NM_001354691.2:c.1222T>G (RAF1)	NP_001341620.1:p.Leu408Val
NM_001354692.2:c.1222T>G (RAF1)	NP_001341621.1:p.Leu408Val
NM_001354693.2:c.1366T>G (RAF1)	NP_001341622.1:p.Leu456Val
NM_001354694.2:c.1282T>G (RAF1)	NP_001341623.1:p.Leu428Val
NM_001354695.2:c.1123T>G (RAF1)	NP_001341624.1:p.Leu375Val
NR_148940.2:n.1909T>G (RAF1)
NR_148941.2:n.1855T>G (RAF1)
NR_148942.2:n.1794T>G (RAF1)
NM_001354690.3:c.1465T>G (RAF1)	NP_001341619.1:p.Leu489Val
NM_001354691.3:c.1222T>G (RAF1)	NP_001341620.1:p.Leu408Val
NM_001354692.3:c.1222T>G (RAF1)	NP_001341621.1:p.Leu408Val
NM_001354693.3:c.1366T>G (RAF1)	NP_001341622.1:p.Leu456Val
NM_001354694.3:c.1282T>G (RAF1)	NP_001341623.1:p.Leu428Val
NM_001354695.3:c.1123T>G (RAF1)	NP_001341624.1:p.Leu375Val
NM_002880.4:c.1465T>G (RAF1) MANE Select	NP_002871.1:p.Leu489Val
NR_148940.3:n.1909T>G (RAF1)
NR_148941.3:n.1855T>G (RAF1)
NR_148942.3:n.1794T>G (RAF1)