Canonical Allele Identifier: CA351499090

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627239T>G (hg19) ; chr3:g.12585740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585740T>G , CM000665.2:g.12585740T>G	GRCh38
NC_000003.11:g.12627239T>G , CM000665.1:g.12627239T>G	GRCh37
NC_000003.10:g.12602239T>G	NCBI36
NG_007467.1:g.83440A>C , LRG_413:g.83440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1142A>C (RAF1)	ENSP00000401088.1:n.*1142A>C
ENST00000432427.3:c.794A>C (RAF1)
ENST00000460610.2:n.5222A>C (RAF1)
ENST00000471449.2:n.287A>C (RAF1)
ENST00000475353.2:n.3190A>C (RAF1)
ENST00000684903.1:c.*1154A>C (RAF1)	ENSP00000508612.1:n.*1154A>C
ENST00000685348.1:c.*1095-334A>C (RAF1)	ENSP00000510285.1:n.*1095-334A>C
ENST00000685437.1:c.1378A>C (RAF1)	ENSP00000508794.1:p.Lys460Gln
ENST00000685653.1:c.1477A>C (RAF1)	ENSP00000509968.1:p.Lys493Gln
ENST00000685697.1:n.2212A>C (RAF1)
ENST00000685738.1:c.*441A>C (RAF1)	ENSP00000510156.1:n.*441A>C
ENST00000686409.1:n.4319A>C (RAF1)
ENST00000686455.1:n.3631A>C (RAF1)
ENST00000686762.1:c.*36A>C (RAF1)	ENSP00000509767.1:n.*36A>C
ENST00000687257.1:n.3504A>C (RAF1)
ENST00000687326.1:c.*2202A>C (RAF1)	ENSP00000509665.1:n.*2202A>C
ENST00000687505.1:n.1595A>C (RAF1)
ENST00000687923.1:c.1366A>C (RAF1)	ENSP00000510255.1:p.Lys456Gln
ENST00000688269.1:n.2073A>C (RAF1)
ENST00000688444.1:n.3594A>C (RAF1)
ENST00000688543.1:c.1378A>C (RAF1)	ENSP00000509612.1:p.Lys460Gln
ENST00000688625.1:c.*2846A>C (RAF1)	ENSP00000509522.1:n.*2846A>C
ENST00000688803.1:n.2965-487A>C (RAF1)
ENST00000688914.1:n.463A>C (RAF1)
ENST00000689097.1:c.*1154A>C (RAF1)	ENSP00000509756.1:n.*1154A>C
ENST00000689389.1:c.1300A>C (RAF1)	ENSP00000510213.1:p.Lys434Gln
ENST00000689418.1:c.*2945A>C (RAF1)	ENSP00000509467.1:n.*2945A>C
ENST00000689540.1:n.3418A>C (RAF1)
ENST00000689876.1:c.1418-334A>C (RAF1)	ENSP00000508535.1:n.1418-334A>C
ENST00000689914.1:c.*411A>C (RAF1)	ENSP00000509847.1:n.*411A>C
ENST00000690397.1:c.1366A>C (RAF1)	ENSP00000508730.1:p.Lys456Gln
ENST00000690460.1:c.1465A>C (RAF1)	ENSP00000509106.1:p.Lys489Gln
ENST00000690585.1:c.263-487A>C (RAF1)
ENST00000690625.1:n.2513A>C (RAF1)
ENST00000691396.1:c.*1349A>C (RAF1)	ENSP00000510712.1:n.*1349A>C
ENST00000691643.1:n.2103A>C (RAF1)
ENST00000691724.1:c.*434A>C (RAF1)	ENSP00000509255.1:n.*434A>C
ENST00000691779.1:c.*1055A>C (RAF1)	ENSP00000508592.1:n.*1055A>C
ENST00000691888.1:c.351A>C (RAF1)
ENST00000691899.1:c.1477A>C (RAF1)	ENSP00000508763.1:p.Lys493Gln
ENST00000692069.1:n.3834A>C (RAF1)
ENST00000692093.1:c.1378A>C (RAF1)	ENSP00000509669.1:p.Lys460Gln
ENST00000692311.1:n.2301A>C (RAF1)
ENST00000692558.1:n.3633A>C (RAF1)
ENST00000692773.1:c.*1214A>C (RAF1)	ENSP00000509055.1:n.*1214A>C
ENST00000692830.1:c.*1222A>C (RAF1)	ENSP00000509461.1:n.*1222A>C
ENST00000693312.1:c.1252A>C (RAF1)	ENSP00000508686.1:p.Lys418Gln
ENST00000693664.1:c.1488-487A>C (RAF1)	ENSP00000509614.1:n.1488-487A>C
ENST00000693705.1:c.*1048-759A>C (RAF1)	ENSP00000510697.1:n.*1048-759A>C
ENST00000251849.9:c.1477A>C (RAF1) MANE Select	ENSP00000251849.4:p.Lys493Gln
ENST00000442415.7:c.1537A>C (RAF1)	ENSP00000401888.2:p.Lys513Gln
ENST00000676541.1:c.*3487T>G (MKRN2)	ENSP00000503730.1:n.*3487T>G
ENST00000677142.1:c.*3487T>G (MKRN2)	ENSP00000504455.1:n.*3487T>G
ENST00000677816.1:c.*2042T>G (MKRN2)	ENSP00000502893.1:n.*2042T>G
ENST00000677941.1:n.3550T>G (MKRN2)
ENST00000251849.8:c.1477A>C (RAF1)	ENSP00000251849.4:p.Lys493Gln
ENST00000423275.5:c.*1154A>C (RAF1)	ENSP00000401088.1:n.*1154A>C
ENST00000432427.2:c.1114A>C (RAF1)	ENSP00000398591.2:p.Lys372Gln
ENST00000442415.6:c.1537A>C (RAF1)	ENSP00000401888.2:p.Lys513Gln
ENST00000471449.1:n.166A>C (RAF1)
NM_002880.3:c.1477A>C , LRG_413t1:c.1477A>C (RAF1)	NP_002871.1:p.Lys493Gln
XM_005265355.1:c.1477A>C (RAF1)	XP_005265412.1:p.Lys493Gln
XM_005265357.1:c.1378A>C (RAF1)	XP_005265414.1:p.Lys460Gln
XM_005265358.3:c.1234A>C (RAF1)	XP_005265415.1:p.Lys412Gln
XM_005265359.3:c.1135A>C (RAF1)	XP_005265416.1:p.Lys379Gln
XM_005265360.1:c.1418-334A>C (RAF1)	XP_005265417.1:n.1418-334A>C
XM_011533974.1:c.1477A>C (RAF1)	XP_011532276.1:p.Lys493Gln
XM_011533975.1:c.1234A>C (RAF1)	XP_011532277.1:p.Lys412Gln
NM_001354689.1:c.1537A>C (RAF1)	NP_001341618.1:p.Lys513Gln
NM_001354690.1:c.1477A>C (RAF1)	NP_001341619.1:p.Lys493Gln
NM_001354691.1:c.1234A>C (RAF1)	NP_001341620.1:p.Lys412Gln
NM_001354692.1:c.1234A>C (RAF1)	NP_001341621.1:p.Lys412Gln
NM_001354693.1:c.1378A>C (RAF1)	NP_001341622.1:p.Lys460Gln
NM_001354694.1:c.1294A>C (RAF1)	NP_001341623.1:p.Lys432Gln
NM_001354695.1:c.1135A>C (RAF1)	NP_001341624.1:p.Lys379Gln
NR_148940.1:n.2005A>C (RAF1)
NR_148941.1:n.1951A>C (RAF1)
NR_148942.1:n.1890A>C (RAF1)
XM_011533974.3:c.1477A>C (RAF1)	XP_011532276.1:p.Lys493Gln
XM_017006966.1:c.1378A>C (RAF1)	XP_016862455.1:p.Lys460Gln
NM_001354689.3:c.1537A>C (RAF1)	NP_001341618.1:p.Lys513Gln
NM_001354690.2:c.1477A>C (RAF1)	NP_001341619.1:p.Lys493Gln
NM_001354691.2:c.1234A>C (RAF1)	NP_001341620.1:p.Lys412Gln
NM_001354692.2:c.1234A>C (RAF1)	NP_001341621.1:p.Lys412Gln
NM_001354693.2:c.1378A>C (RAF1)	NP_001341622.1:p.Lys460Gln
NM_001354694.2:c.1294A>C (RAF1)	NP_001341623.1:p.Lys432Gln
NM_001354695.2:c.1135A>C (RAF1)	NP_001341624.1:p.Lys379Gln
NR_148940.2:n.1921A>C (RAF1)
NR_148941.2:n.1867A>C (RAF1)
NR_148942.2:n.1806A>C (RAF1)
NM_001354690.3:c.1477A>C (RAF1)	NP_001341619.1:p.Lys493Gln
NM_001354691.3:c.1234A>C (RAF1)	NP_001341620.1:p.Lys412Gln
NM_001354692.3:c.1234A>C (RAF1)	NP_001341621.1:p.Lys412Gln
NM_001354693.3:c.1378A>C (RAF1)	NP_001341622.1:p.Lys460Gln
NM_001354694.3:c.1294A>C (RAF1)	NP_001341623.1:p.Lys432Gln
NM_001354695.3:c.1135A>C (RAF1)	NP_001341624.1:p.Lys379Gln
NM_002880.4:c.1477A>C (RAF1) MANE Select	NP_002871.1:p.Lys493Gln
NR_148940.3:n.1921A>C (RAF1)
NR_148941.3:n.1867A>C (RAF1)
NR_148942.3:n.1806A>C (RAF1)