Canonical Allele Identifier: CA2259423

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 577639
• ClinVar RCV Id: RCV000700445 ; RCV003226373 ; RCV002397446
• dbSNP Id: rs752063874
• ExAC: 3:12626408 T / C
• gnomAD v2: 3-12626408-T-C
• gnomAD v3: 3-12584909-T-C
• gnomAD v4: 3-12584909-T-C
• MyVariant Identifiers: chr3:g.12626408T>C (hg19) ; chr3:g.12584909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584909T>C , CM000665.2:g.12584909T>C	GRCh38
NC_000003.11:g.12626408T>C , CM000665.1:g.12626408T>C	GRCh37
NC_000003.10:g.12601408T>C	NCBI36
NG_007467.1:g.84271A>G , LRG_413:g.84271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1406A>G (RAF1)	ENSP00000401088.1:n.*1406A>G
ENST00000432427.3:c.1058A>G (RAF1)
ENST00000460610.2:n.6053A>G (RAF1)
ENST00000471449.2:n.551A>G (RAF1)
ENST00000475353.2:n.4021A>G (RAF1)
ENST00000684903.1:c.*1418A>G (RAF1)	ENSP00000508612.1:n.*1418A>G
ENST00000685348.1:c.*1452A>G (RAF1)	ENSP00000510285.1:n.*1452A>G
ENST00000685437.1:c.1642A>G (RAF1)	ENSP00000508794.1:p.Met548Val
ENST00000685653.1:c.1741A>G (RAF1)	ENSP00000509968.1:p.Met581Val
ENST00000685697.1:n.2476A>G (RAF1)
ENST00000685738.1:c.*705A>G (RAF1)	ENSP00000510156.1:n.*705A>G
ENST00000686409.1:n.5150A>G (RAF1)
ENST00000686455.1:n.4462A>G (RAF1)
ENST00000686762.1:c.*300A>G (RAF1)	ENSP00000509767.1:n.*300A>G
ENST00000687257.1:n.4195A>G (RAF1)
ENST00000687326.1:c.*3033A>G (RAF1)	ENSP00000509665.1:n.*3033A>G
ENST00000687505.1:n.1859A>G (RAF1)
ENST00000687923.1:c.1630A>G (RAF1)	ENSP00000510255.1:p.Met544Val
ENST00000688269.1:n.2337A>G (RAF1)
ENST00000688444.1:n.3858A>G (RAF1)
ENST00000688543.1:c.1642A>G (RAF1)	ENSP00000509612.1:p.Met548Val
ENST00000688625.1:c.*3110A>G (RAF1)	ENSP00000509522.1:n.*3110A>G
ENST00000688803.1:n.3169A>G (RAF1)
ENST00000688914.1:n.1154A>G (RAF1)
ENST00000689097.1:c.*1418A>G (RAF1)	ENSP00000509756.1:n.*1418A>G
ENST00000689389.1:c.1564A>G (RAF1)	ENSP00000510213.1:p.Met522Val
ENST00000689418.1:c.*3636A>G (RAF1)	ENSP00000509467.1:n.*3636A>G
ENST00000689540.1:n.4109A>G (RAF1)
ENST00000689876.1:c.*290A>G (RAF1)	ENSP00000508535.1:n.*290A>G
ENST00000689914.1:c.*675A>G (RAF1)	ENSP00000509847.1:n.*675A>G
ENST00000690397.1:c.1630A>G (RAF1)	ENSP00000508730.1:p.Met544Val
ENST00000690460.1:c.1729A>G (RAF1)	ENSP00000509106.1:p.Met577Val
ENST00000690585.1:c.467A>G (RAF1)
ENST00000690625.1:n.2777A>G (RAF1)
ENST00000691396.1:c.*1613A>G (RAF1)	ENSP00000510712.1:n.*1613A>G
ENST00000691643.1:n.2794A>G (RAF1)
ENST00000691724.1:c.*698A>G (RAF1)	ENSP00000509255.1:n.*698A>G
ENST00000691779.1:c.*1319A>G (RAF1)	ENSP00000508592.1:n.*1319A>G
ENST00000691888.1:c.615A>G (RAF1)
ENST00000691899.1:c.1741A>G (RAF1)	ENSP00000508763.1:p.Met581Val
ENST00000692069.1:n.4665A>G (RAF1)
ENST00000692093.1:c.1642A>G (RAF1)	ENSP00000509669.1:p.Met548Val
ENST00000692311.1:n.2565A>G (RAF1)
ENST00000692558.1:n.4324A>G (RAF1)
ENST00000692773.1:c.*1478A>G (RAF1)	ENSP00000509055.1:n.*1478A>G
ENST00000692830.1:c.*1486A>G (RAF1)	ENSP00000509461.1:n.*1486A>G
ENST00000693312.1:c.1516A>G (RAF1)	ENSP00000508686.1:p.Met506Val
ENST00000693664.1:c.*192A>G (RAF1)	ENSP00000509614.1:n.*192A>G
ENST00000693705.1:c.*1120A>G (RAF1)	ENSP00000510697.1:n.*1120A>G
ENST00000251849.9:c.1741A>G (RAF1) MANE Select	ENSP00000251849.4:p.Met581Val
ENST00000442415.7:c.1801A>G (RAF1)	ENSP00000401888.2:p.Met601Val
ENST00000676541.1:c.*2656T>C (MKRN2)	ENSP00000503730.1:n.*2656T>C
ENST00000677142.1:c.*2656T>C (MKRN2)	ENSP00000504455.1:n.*2656T>C
ENST00000677816.1:c.*1211T>C (MKRN2)	ENSP00000502893.1:n.*1211T>C
ENST00000677941.1:n.2719T>C (MKRN2)
ENST00000251849.8:c.1741A>G (RAF1)	ENSP00000251849.4:p.Met581Val
ENST00000423275.5:c.*1418A>G (RAF1)	ENSP00000401088.1:n.*1418A>G
ENST00000432427.2:c.1378A>G (RAF1)	ENSP00000398591.2:p.Met460Val
ENST00000442415.6:c.1801A>G (RAF1)	ENSP00000401888.2:p.Met601Val
ENST00000471449.1:n.430A>G (RAF1)
NM_002880.3:c.1741A>G , LRG_413t1:c.1741A>G (RAF1)	NP_002871.1:p.Met581Val
XM_005265355.1:c.1741A>G (RAF1)	XP_005265412.1:p.Met581Val
XM_005265357.1:c.1642A>G (RAF1)	XP_005265414.1:p.Met548Val
XM_005265358.3:c.1498A>G (RAF1)	XP_005265415.1:p.Met500Val
XM_005265359.3:c.1399A>G (RAF1)	XP_005265416.1:p.Met467Val
XM_011533974.1:c.1741A>G (RAF1)	XP_011532276.1:p.Met581Val
XM_011533975.1:c.1498A>G (RAF1)	XP_011532277.1:p.Met500Val
NM_001354689.1:c.1801A>G (RAF1)	NP_001341618.1:p.Met601Val
NM_001354690.1:c.1741A>G (RAF1)	NP_001341619.1:p.Met581Val
NM_001354691.1:c.1498A>G (RAF1)	NP_001341620.1:p.Met500Val
NM_001354692.1:c.1498A>G (RAF1)	NP_001341621.1:p.Met500Val
NM_001354693.1:c.1642A>G (RAF1)	NP_001341622.1:p.Met548Val
NM_001354694.1:c.1558A>G (RAF1)	NP_001341623.1:p.Met520Val
NM_001354695.1:c.1399A>G (RAF1)	NP_001341624.1:p.Met467Val
NR_148940.1:n.2269A>G (RAF1)
NR_148941.1:n.2215A>G (RAF1)
NR_148942.1:n.2154A>G (RAF1)
XM_011533974.3:c.1741A>G (RAF1)	XP_011532276.1:p.Met581Val
XM_017006966.1:c.1642A>G (RAF1)	XP_016862455.1:p.Met548Val
NM_001354689.3:c.1801A>G (RAF1)	NP_001341618.1:p.Met601Val
NM_001354690.2:c.1741A>G (RAF1)	NP_001341619.1:p.Met581Val
NM_001354691.2:c.1498A>G (RAF1)	NP_001341620.1:p.Met500Val
NM_001354692.2:c.1498A>G (RAF1)	NP_001341621.1:p.Met500Val
NM_001354693.2:c.1642A>G (RAF1)	NP_001341622.1:p.Met548Val
NM_001354694.2:c.1558A>G (RAF1)	NP_001341623.1:p.Met520Val
NM_001354695.2:c.1399A>G (RAF1)	NP_001341624.1:p.Met467Val
NR_148940.2:n.2185A>G (RAF1)
NR_148941.2:n.2131A>G (RAF1)
NR_148942.2:n.2070A>G (RAF1)
NM_001354690.3:c.1741A>G (RAF1)	NP_001341619.1:p.Met581Val
NM_001354691.3:c.1498A>G (RAF1)	NP_001341620.1:p.Met500Val
NM_001354692.3:c.1498A>G (RAF1)	NP_001341621.1:p.Met500Val
NM_001354693.3:c.1642A>G (RAF1)	NP_001341622.1:p.Met548Val
NM_001354694.3:c.1558A>G (RAF1)	NP_001341623.1:p.Met520Val
NM_001354695.3:c.1399A>G (RAF1)	NP_001341624.1:p.Met467Val
NM_002880.4:c.1741A>G (RAF1) MANE Select	NP_002871.1:p.Met581Val
NR_148940.3:n.2185A>G (RAF1)
NR_148941.3:n.2131A>G (RAF1)
NR_148942.3:n.2070A>G (RAF1)