Canonical Allele Identifier: CA351496860

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626440A>C (hg19) ; chr3:g.12584941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584941A>C , CM000665.2:g.12584941A>C	GRCh38
NC_000003.11:g.12626440A>C , CM000665.1:g.12626440A>C	GRCh37
NC_000003.10:g.12601440A>C	NCBI36
NG_007467.1:g.84239T>G , LRG_413:g.84239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1374T>G (RAF1)	ENSP00000401088.1:n.*1374T>G
ENST00000432427.3:c.1026T>G (RAF1)
ENST00000460610.2:n.6021T>G (RAF1)
ENST00000471449.2:n.519T>G (RAF1)
ENST00000475353.2:n.3989T>G (RAF1)
ENST00000684903.1:c.*1386T>G (RAF1)	ENSP00000508612.1:n.*1386T>G
ENST00000685348.1:c.*1420T>G (RAF1)	ENSP00000510285.1:n.*1420T>G
ENST00000685437.1:c.1610T>G (RAF1)	ENSP00000508794.1:p.Leu537Arg
ENST00000685653.1:c.1709T>G (RAF1)	ENSP00000509968.1:p.Leu570Arg
ENST00000685697.1:n.2444T>G (RAF1)
ENST00000685738.1:c.*673T>G (RAF1)	ENSP00000510156.1:n.*673T>G
ENST00000686409.1:n.5118T>G (RAF1)
ENST00000686455.1:n.4430T>G (RAF1)
ENST00000686762.1:c.*268T>G (RAF1)	ENSP00000509767.1:n.*268T>G
ENST00000687257.1:n.4163T>G (RAF1)
ENST00000687326.1:c.*3001T>G (RAF1)	ENSP00000509665.1:n.*3001T>G
ENST00000687505.1:n.1827T>G (RAF1)
ENST00000687923.1:c.1598T>G (RAF1)	ENSP00000510255.1:p.Leu533Arg
ENST00000688269.1:n.2305T>G (RAF1)
ENST00000688444.1:n.3826T>G (RAF1)
ENST00000688543.1:c.1610T>G (RAF1)	ENSP00000509612.1:p.Leu537Arg
ENST00000688625.1:c.*3078T>G (RAF1)	ENSP00000509522.1:n.*3078T>G
ENST00000688803.1:n.3137T>G (RAF1)
ENST00000688914.1:n.1122T>G (RAF1)
ENST00000689097.1:c.*1386T>G (RAF1)	ENSP00000509756.1:n.*1386T>G
ENST00000689389.1:c.1532T>G (RAF1)	ENSP00000510213.1:p.Leu511Arg
ENST00000689418.1:c.*3604T>G (RAF1)	ENSP00000509467.1:n.*3604T>G
ENST00000689540.1:n.4077T>G (RAF1)
ENST00000689876.1:c.*258T>G (RAF1)	ENSP00000508535.1:n.*258T>G
ENST00000689914.1:c.*643T>G (RAF1)	ENSP00000509847.1:n.*643T>G
ENST00000690397.1:c.1598T>G (RAF1)	ENSP00000508730.1:p.Leu533Arg
ENST00000690460.1:c.1697T>G (RAF1)	ENSP00000509106.1:p.Leu566Arg
ENST00000690585.1:c.435T>G (RAF1)
ENST00000690625.1:n.2745T>G (RAF1)
ENST00000691396.1:c.*1581T>G (RAF1)	ENSP00000510712.1:n.*1581T>G
ENST00000691643.1:n.2762T>G (RAF1)
ENST00000691724.1:c.*666T>G (RAF1)	ENSP00000509255.1:n.*666T>G
ENST00000691779.1:c.*1287T>G (RAF1)	ENSP00000508592.1:n.*1287T>G
ENST00000691888.1:c.583T>G (RAF1)
ENST00000691899.1:c.1709T>G (RAF1)	ENSP00000508763.1:p.Leu570Arg
ENST00000692069.1:n.4633T>G (RAF1)
ENST00000692093.1:c.1610T>G (RAF1)	ENSP00000509669.1:p.Leu537Arg
ENST00000692311.1:n.2533T>G (RAF1)
ENST00000692558.1:n.4292T>G (RAF1)
ENST00000692773.1:c.*1446T>G (RAF1)	ENSP00000509055.1:n.*1446T>G
ENST00000692830.1:c.*1454T>G (RAF1)	ENSP00000509461.1:n.*1454T>G
ENST00000693312.1:c.1484T>G (RAF1)	ENSP00000508686.1:p.Leu495Arg
ENST00000693664.1:c.*160T>G (RAF1)	ENSP00000509614.1:n.*160T>G
ENST00000693705.1:c.*1088T>G (RAF1)	ENSP00000510697.1:n.*1088T>G
ENST00000251849.9:c.1709T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu570Arg
ENST00000442415.7:c.1769T>G (RAF1)	ENSP00000401888.2:p.Leu590Arg
ENST00000676541.1:c.*2688A>C (MKRN2)	ENSP00000503730.1:n.*2688A>C
ENST00000677142.1:c.*2688A>C (MKRN2)	ENSP00000504455.1:n.*2688A>C
ENST00000677816.1:c.*1243A>C (MKRN2)	ENSP00000502893.1:n.*1243A>C
ENST00000677941.1:n.2751A>C (MKRN2)
ENST00000251849.8:c.1709T>G (RAF1)	ENSP00000251849.4:p.Leu570Arg
ENST00000423275.5:c.*1386T>G (RAF1)	ENSP00000401088.1:n.*1386T>G
ENST00000432427.2:c.1346T>G (RAF1)	ENSP00000398591.2:p.Leu449Arg
ENST00000442415.6:c.1769T>G (RAF1)	ENSP00000401888.2:p.Leu590Arg
ENST00000471449.1:n.398T>G (RAF1)
NM_002880.3:c.1709T>G , LRG_413t1:c.1709T>G (RAF1)	NP_002871.1:p.Leu570Arg
XM_005265355.1:c.1709T>G (RAF1)	XP_005265412.1:p.Leu570Arg
XM_005265357.1:c.1610T>G (RAF1)	XP_005265414.1:p.Leu537Arg
XM_005265358.3:c.1466T>G (RAF1)	XP_005265415.1:p.Leu489Arg
XM_005265359.3:c.1367T>G (RAF1)	XP_005265416.1:p.Leu456Arg
XM_011533974.1:c.1709T>G (RAF1)	XP_011532276.1:p.Leu570Arg
XM_011533975.1:c.1466T>G (RAF1)	XP_011532277.1:p.Leu489Arg
NM_001354689.1:c.1769T>G (RAF1)	NP_001341618.1:p.Leu590Arg
NM_001354690.1:c.1709T>G (RAF1)	NP_001341619.1:p.Leu570Arg
NM_001354691.1:c.1466T>G (RAF1)	NP_001341620.1:p.Leu489Arg
NM_001354692.1:c.1466T>G (RAF1)	NP_001341621.1:p.Leu489Arg
NM_001354693.1:c.1610T>G (RAF1)	NP_001341622.1:p.Leu537Arg
NM_001354694.1:c.1526T>G (RAF1)	NP_001341623.1:p.Leu509Arg
NM_001354695.1:c.1367T>G (RAF1)	NP_001341624.1:p.Leu456Arg
NR_148940.1:n.2237T>G (RAF1)
NR_148941.1:n.2183T>G (RAF1)
NR_148942.1:n.2122T>G (RAF1)
XM_011533974.3:c.1709T>G (RAF1)	XP_011532276.1:p.Leu570Arg
XM_017006966.1:c.1610T>G (RAF1)	XP_016862455.1:p.Leu537Arg
NM_001354689.3:c.1769T>G (RAF1)	NP_001341618.1:p.Leu590Arg
NM_001354690.2:c.1709T>G (RAF1)	NP_001341619.1:p.Leu570Arg
NM_001354691.2:c.1466T>G (RAF1)	NP_001341620.1:p.Leu489Arg
NM_001354692.2:c.1466T>G (RAF1)	NP_001341621.1:p.Leu489Arg
NM_001354693.2:c.1610T>G (RAF1)	NP_001341622.1:p.Leu537Arg
NM_001354694.2:c.1526T>G (RAF1)	NP_001341623.1:p.Leu509Arg
NM_001354695.2:c.1367T>G (RAF1)	NP_001341624.1:p.Leu456Arg
NR_148940.2:n.2153T>G (RAF1)
NR_148941.2:n.2099T>G (RAF1)
NR_148942.2:n.2038T>G (RAF1)
NM_001354690.3:c.1709T>G (RAF1)	NP_001341619.1:p.Leu570Arg
NM_001354691.3:c.1466T>G (RAF1)	NP_001341620.1:p.Leu489Arg
NM_001354692.3:c.1466T>G (RAF1)	NP_001341621.1:p.Leu489Arg
NM_001354693.3:c.1610T>G (RAF1)	NP_001341622.1:p.Leu537Arg
NM_001354694.3:c.1526T>G (RAF1)	NP_001341623.1:p.Leu509Arg
NM_001354695.3:c.1367T>G (RAF1)	NP_001341624.1:p.Leu456Arg
NM_002880.4:c.1709T>G (RAF1) MANE Select	NP_002871.1:p.Leu570Arg
NR_148940.3:n.2153T>G (RAF1)
NR_148941.3:n.2099T>G (RAF1)
NR_148942.3:n.2038T>G (RAF1)