Canonical Allele Identifier: CA261610

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 40618
• ClinVar RCV Id: RCV000037675 ; RCV000434022 ; RCV000555975 ; RCV004554639
• dbSNP Id: rs397516815
• MyVariant Identifiers: chr3:g.12627259T>C (hg19) ; chr3:g.12585760T>C (hg38)
• PubMed: PMID:17603483

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585760T>C , CM000665.2:g.12585760T>C	GRCh38
NC_000003.11:g.12627259T>C , CM000665.1:g.12627259T>C	GRCh37
NC_000003.10:g.12602259T>C	NCBI36
NG_007467.1:g.83420A>G , LRG_413:g.83420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1122A>G (RAF1)	ENSP00000401088.1:n.*1122A>G
ENST00000432427.3:c.774A>G (RAF1)
ENST00000460610.2:n.5202A>G (RAF1)
ENST00000471449.2:n.267A>G (RAF1)
ENST00000475353.2:n.3170A>G (RAF1)
ENST00000684903.1:c.*1134A>G (RAF1)	ENSP00000508612.1:n.*1134A>G
ENST00000685348.1:c.*1095-354A>G (RAF1)	ENSP00000510285.1:n.*1095-354A>G
ENST00000685437.1:c.1358A>G (RAF1)	ENSP00000508794.1:p.Asp453Gly
ENST00000685653.1:c.1457A>G (RAF1)	ENSP00000509968.1:p.Asp486Gly
ENST00000685697.1:n.2192A>G (RAF1)
ENST00000685738.1:c.*421A>G (RAF1)	ENSP00000510156.1:n.*421A>G
ENST00000686409.1:n.4299A>G (RAF1)
ENST00000686455.1:n.3611A>G (RAF1)
ENST00000686762.1:c.*16A>G (RAF1)	ENSP00000509767.1:n.*16A>G
ENST00000687257.1:n.3484A>G (RAF1)
ENST00000687326.1:c.*2182A>G (RAF1)	ENSP00000509665.1:n.*2182A>G
ENST00000687505.1:n.1575A>G (RAF1)
ENST00000687923.1:c.1346A>G (RAF1)	ENSP00000510255.1:p.Asp449Gly
ENST00000688269.1:n.2053A>G (RAF1)
ENST00000688444.1:n.3574A>G (RAF1)
ENST00000688543.1:c.1358A>G (RAF1)	ENSP00000509612.1:p.Asp453Gly
ENST00000688625.1:c.*2826A>G (RAF1)	ENSP00000509522.1:n.*2826A>G
ENST00000688803.1:n.2965-507A>G (RAF1)
ENST00000688914.1:n.443A>G (RAF1)
ENST00000689097.1:c.*1134A>G (RAF1)	ENSP00000509756.1:n.*1134A>G
ENST00000689389.1:c.1280A>G (RAF1)	ENSP00000510213.1:p.Asp427Gly
ENST00000689418.1:c.*2925A>G (RAF1)	ENSP00000509467.1:n.*2925A>G
ENST00000689540.1:n.3398A>G (RAF1)
ENST00000689876.1:c.1418-354A>G (RAF1)	ENSP00000508535.1:n.1418-354A>G
ENST00000689914.1:c.*391A>G (RAF1)	ENSP00000509847.1:n.*391A>G
ENST00000690397.1:c.1346A>G (RAF1)	ENSP00000508730.1:p.Asp449Gly
ENST00000690460.1:c.1445A>G (RAF1)	ENSP00000509106.1:p.Asp482Gly
ENST00000690585.1:c.263-507A>G (RAF1)
ENST00000690625.1:n.2493A>G (RAF1)
ENST00000691396.1:c.*1329A>G (RAF1)	ENSP00000510712.1:n.*1329A>G
ENST00000691643.1:n.2083A>G (RAF1)
ENST00000691724.1:c.*414A>G (RAF1)	ENSP00000509255.1:n.*414A>G
ENST00000691779.1:c.*1035A>G (RAF1)	ENSP00000508592.1:n.*1035A>G
ENST00000691888.1:c.331A>G (RAF1)
ENST00000691899.1:c.1457A>G (RAF1)	ENSP00000508763.1:p.Asp486Gly
ENST00000692069.1:n.3814A>G (RAF1)
ENST00000692093.1:c.1358A>G (RAF1)	ENSP00000509669.1:p.Asp453Gly
ENST00000692311.1:n.2281A>G (RAF1)
ENST00000692558.1:n.3613A>G (RAF1)
ENST00000692773.1:c.*1194A>G (RAF1)	ENSP00000509055.1:n.*1194A>G
ENST00000692830.1:c.*1202A>G (RAF1)	ENSP00000509461.1:n.*1202A>G
ENST00000693312.1:c.1232A>G (RAF1)	ENSP00000508686.1:p.Asp411Gly
ENST00000693664.1:c.1488-507A>G (RAF1)	ENSP00000509614.1:n.1488-507A>G
ENST00000693705.1:c.*1048-779A>G (RAF1)	ENSP00000510697.1:n.*1048-779A>G
ENST00000251849.9:c.1457A>G (RAF1) MANE Select	ENSP00000251849.4:p.Asp486Gly
ENST00000442415.7:c.1517A>G (RAF1)	ENSP00000401888.2:p.Asp506Gly
ENST00000676541.1:c.*3507T>C (MKRN2)	ENSP00000503730.1:n.*3507T>C
ENST00000677142.1:c.*3507T>C (MKRN2)	ENSP00000504455.1:n.*3507T>C
ENST00000677816.1:c.*2062T>C (MKRN2)	ENSP00000502893.1:n.*2062T>C
ENST00000677941.1:n.3570T>C (MKRN2)
ENST00000251849.8:c.1457A>G (RAF1)	ENSP00000251849.4:p.Asp486Gly
ENST00000423275.5:c.*1134A>G (RAF1)	ENSP00000401088.1:n.*1134A>G
ENST00000432427.2:c.1094A>G (RAF1)	ENSP00000398591.2:p.Asp365Gly
ENST00000442415.6:c.1517A>G (RAF1)	ENSP00000401888.2:p.Asp506Gly
ENST00000471449.1:n.146A>G (RAF1)
NM_002880.3:c.1457A>G , LRG_413t1:c.1457A>G (RAF1)	NP_002871.1:p.Asp486Gly
XM_005265355.1:c.1457A>G (RAF1)	XP_005265412.1:p.Asp486Gly
XM_005265357.1:c.1358A>G (RAF1)	XP_005265414.1:p.Asp453Gly
XM_005265358.3:c.1214A>G (RAF1)	XP_005265415.1:p.Asp405Gly
XM_005265359.3:c.1115A>G (RAF1)	XP_005265416.1:p.Asp372Gly
XM_005265360.1:c.1418-354A>G (RAF1)	XP_005265417.1:n.1418-354A>G
XM_011533974.1:c.1457A>G (RAF1)	XP_011532276.1:p.Asp486Gly
XM_011533975.1:c.1214A>G (RAF1)	XP_011532277.1:p.Asp405Gly
NM_001354689.1:c.1517A>G (RAF1)	NP_001341618.1:p.Asp506Gly
NM_001354690.1:c.1457A>G (RAF1)	NP_001341619.1:p.Asp486Gly
NM_001354691.1:c.1214A>G (RAF1)	NP_001341620.1:p.Asp405Gly
NM_001354692.1:c.1214A>G (RAF1)	NP_001341621.1:p.Asp405Gly
NM_001354693.1:c.1358A>G (RAF1)	NP_001341622.1:p.Asp453Gly
NM_001354694.1:c.1274A>G (RAF1)	NP_001341623.1:p.Asp425Gly
NM_001354695.1:c.1115A>G (RAF1)	NP_001341624.1:p.Asp372Gly
NR_148940.1:n.1985A>G (RAF1)
NR_148941.1:n.1931A>G (RAF1)
NR_148942.1:n.1870A>G (RAF1)
XM_011533974.3:c.1457A>G (RAF1)	XP_011532276.1:p.Asp486Gly
XM_017006966.1:c.1358A>G (RAF1)	XP_016862455.1:p.Asp453Gly
NM_001354689.3:c.1517A>G (RAF1)	NP_001341618.1:p.Asp506Gly
NM_001354690.2:c.1457A>G (RAF1)	NP_001341619.1:p.Asp486Gly
NM_001354691.2:c.1214A>G (RAF1)	NP_001341620.1:p.Asp405Gly
NM_001354692.2:c.1214A>G (RAF1)	NP_001341621.1:p.Asp405Gly
NM_001354693.2:c.1358A>G (RAF1)	NP_001341622.1:p.Asp453Gly
NM_001354694.2:c.1274A>G (RAF1)	NP_001341623.1:p.Asp425Gly
NM_001354695.2:c.1115A>G (RAF1)	NP_001341624.1:p.Asp372Gly
NR_148940.2:n.1901A>G (RAF1)
NR_148941.2:n.1847A>G (RAF1)
NR_148942.2:n.1786A>G (RAF1)
NM_001354690.3:c.1457A>G (RAF1)	NP_001341619.1:p.Asp486Gly
NM_001354691.3:c.1214A>G (RAF1)	NP_001341620.1:p.Asp405Gly
NM_001354692.3:c.1214A>G (RAF1)	NP_001341621.1:p.Asp405Gly
NM_001354693.3:c.1358A>G (RAF1)	NP_001341622.1:p.Asp453Gly
NM_001354694.3:c.1274A>G (RAF1)	NP_001341623.1:p.Asp425Gly
NM_001354695.3:c.1115A>G (RAF1)	NP_001341624.1:p.Asp372Gly
NM_002880.4:c.1457A>G (RAF1) MANE Select	NP_002871.1:p.Asp486Gly
NR_148940.3:n.1901A>G (RAF1)
NR_148941.3:n.1847A>G (RAF1)
NR_148942.3:n.1786A>G (RAF1)