Canonical Allele Identifier: CA351495673

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs1286582905
• gnomAD v2: 3-12626061-A-C
• gnomAD v4: 3-12584562-A-C
• MyVariant Identifiers: chr3:g.12626061A>C (hg19) ; chr3:g.12584562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584562A>C , CM000665.2:g.12584562A>C	GRCh38
NC_000003.11:g.12626061A>C , CM000665.1:g.12626061A>C	GRCh37
NC_000003.10:g.12601061A>C	NCBI36
NG_007467.1:g.84618T>G , LRG_413:g.84618T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1564T>G (RAF1)	ENSP00000401088.1:n.*1564T>G
ENST00000432427.3:c.1216T>G (RAF1)
ENST00000460610.2:n.6211T>G (RAF1)
ENST00000471449.2:n.709T>G (RAF1)
ENST00000475353.2:n.4179T>G (RAF1)
ENST00000684903.1:c.*1576T>G (RAF1)	ENSP00000508612.1:n.*1576T>G
ENST00000685348.1:c.*1610T>G (RAF1)	ENSP00000510285.1:n.*1610T>G
ENST00000685437.1:c.1800T>G (RAF1)	ENSP00000508794.1:p.Asp600Glu
ENST00000685653.1:c.1899T>G (RAF1)	ENSP00000509968.1:p.Asp633Glu
ENST00000685697.1:n.2634T>G (RAF1)
ENST00000685738.1:c.*863T>G (RAF1)	ENSP00000510156.1:n.*863T>G
ENST00000686409.1:n.5308T>G (RAF1)
ENST00000686455.1:n.4620T>G (RAF1)
ENST00000686762.1:c.*458T>G (RAF1)	ENSP00000509767.1:n.*458T>G
ENST00000687257.1:n.4353T>G (RAF1)
ENST00000687326.1:c.*3191T>G (RAF1)	ENSP00000509665.1:n.*3191T>G
ENST00000687505.1:n.2017T>G (RAF1)
ENST00000687923.1:c.1788T>G (RAF1)	ENSP00000510255.1:p.Asp596Glu
ENST00000688269.1:n.2495T>G (RAF1)
ENST00000688444.1:n.4016T>G (RAF1)
ENST00000688543.1:c.1800T>G (RAF1)	ENSP00000509612.1:p.Asp600Glu
ENST00000688625.1:c.*3268T>G (RAF1)	ENSP00000509522.1:n.*3268T>G
ENST00000688803.1:n.3327T>G (RAF1)
ENST00000689097.1:c.*1576T>G (RAF1)	ENSP00000509756.1:n.*1576T>G
ENST00000689389.1:c.1722T>G (RAF1)	ENSP00000510213.1:p.Asp574Glu
ENST00000689418.1:c.*3794T>G (RAF1)	ENSP00000509467.1:n.*3794T>G
ENST00000689540.1:n.4267T>G (RAF1)
ENST00000689876.1:c.*448T>G (RAF1)	ENSP00000508535.1:n.*448T>G
ENST00000689914.1:c.*833T>G (RAF1)	ENSP00000509847.1:n.*833T>G
ENST00000690397.1:c.1788T>G (RAF1)	ENSP00000508730.1:p.Asp596Glu
ENST00000690460.1:c.1887T>G (RAF1)	ENSP00000509106.1:p.Asp629Glu
ENST00000690585.1:c.625T>G (RAF1)
ENST00000690625.1:n.2935T>G (RAF1)
ENST00000691396.1:c.*1771T>G (RAF1)	ENSP00000510712.1:n.*1771T>G
ENST00000691643.1:n.2952T>G (RAF1)
ENST00000691724.1:c.*856T>G (RAF1)	ENSP00000509255.1:n.*856T>G
ENST00000691779.1:c.*1477T>G (RAF1)	ENSP00000508592.1:n.*1477T>G
ENST00000691888.1:c.773T>G (RAF1)
ENST00000691899.1:c.1899T>G (RAF1)	ENSP00000508763.1:p.Asp633Glu
ENST00000692069.1:n.4823T>G (RAF1)
ENST00000692093.1:c.1800T>G (RAF1)	ENSP00000509669.1:p.Asp600Glu
ENST00000692311.1:n.2723T>G (RAF1)
ENST00000692558.1:n.4482T>G (RAF1)
ENST00000692773.1:c.*1636T>G (RAF1)	ENSP00000509055.1:n.*1636T>G
ENST00000692830.1:c.*1644T>G (RAF1)	ENSP00000509461.1:n.*1644T>G
ENST00000693312.1:c.1674T>G (RAF1)	ENSP00000508686.1:p.Asp558Glu
ENST00000693664.1:c.*350T>G (RAF1)	ENSP00000509614.1:n.*350T>G
ENST00000693705.1:c.*1278T>G (RAF1)	ENSP00000510697.1:n.*1278T>G
ENST00000251849.9:c.1899T>G (RAF1) MANE Select	ENSP00000251849.4:p.Asp633Glu
ENST00000442415.7:c.1959T>G (RAF1)	ENSP00000401888.2:p.Asp653Glu
ENST00000676541.1:c.*2309A>C (MKRN2)	ENSP00000503730.1:n.*2309A>C
ENST00000677142.1:c.*2309A>C (MKRN2)	ENSP00000504455.1:n.*2309A>C
ENST00000677816.1:c.*864A>C (MKRN2)	ENSP00000502893.1:n.*864A>C
ENST00000677941.1:n.2372A>C (MKRN2)
ENST00000251849.8:c.1899T>G (RAF1)	ENSP00000251849.4:p.Asp633Glu
ENST00000423275.5:c.*1576T>G (RAF1)	ENSP00000401088.1:n.*1576T>G
ENST00000432427.2:c.1536T>G (RAF1)	ENSP00000398591.2:p.Asp512Glu
ENST00000442415.6:c.1959T>G (RAF1)	ENSP00000401888.2:p.Asp653Glu
ENST00000471449.1:n.588T>G (RAF1)
NM_002880.3:c.1899T>G , LRG_413t1:c.1899T>G (RAF1)	NP_002871.1:p.Asp633Glu
XM_005265355.1:c.1899T>G (RAF1)	XP_005265412.1:p.Asp633Glu
XM_005265357.1:c.1800T>G (RAF1)	XP_005265414.1:p.Asp600Glu
XM_005265358.3:c.1656T>G (RAF1)	XP_005265415.1:p.Asp552Glu
XM_005265359.3:c.1557T>G (RAF1)	XP_005265416.1:p.Asp519Glu
XM_011533974.1:c.1899T>G (RAF1)	XP_011532276.1:p.Asp633Glu
XM_011533975.1:c.1656T>G (RAF1)	XP_011532277.1:p.Asp552Glu
NM_001354689.1:c.1959T>G (RAF1)	NP_001341618.1:p.Asp653Glu
NM_001354690.1:c.1899T>G (RAF1)	NP_001341619.1:p.Asp633Glu
NM_001354691.1:c.1656T>G (RAF1)	NP_001341620.1:p.Asp552Glu
NM_001354692.1:c.1656T>G (RAF1)	NP_001341621.1:p.Asp552Glu
NM_001354693.1:c.1800T>G (RAF1)	NP_001341622.1:p.Asp600Glu
NM_001354694.1:c.1716T>G (RAF1)	NP_001341623.1:p.Asp572Glu
NM_001354695.1:c.1557T>G (RAF1)	NP_001341624.1:p.Asp519Glu
NR_148940.1:n.2427T>G (RAF1)
NR_148941.1:n.2373T>G (RAF1)
NR_148942.1:n.2312T>G (RAF1)
XM_011533974.3:c.1899T>G (RAF1)	XP_011532276.1:p.Asp633Glu
XM_017006966.1:c.1800T>G (RAF1)	XP_016862455.1:p.Asp600Glu
NM_001354689.3:c.1959T>G (RAF1)	NP_001341618.1:p.Asp653Glu
NM_001354690.2:c.1899T>G (RAF1)	NP_001341619.1:p.Asp633Glu
NM_001354691.2:c.1656T>G (RAF1)	NP_001341620.1:p.Asp552Glu
NM_001354692.2:c.1656T>G (RAF1)	NP_001341621.1:p.Asp552Glu
NM_001354693.2:c.1800T>G (RAF1)	NP_001341622.1:p.Asp600Glu
NM_001354694.2:c.1716T>G (RAF1)	NP_001341623.1:p.Asp572Glu
NM_001354695.2:c.1557T>G (RAF1)	NP_001341624.1:p.Asp519Glu
NR_148940.2:n.2343T>G (RAF1)
NR_148941.2:n.2289T>G (RAF1)
NR_148942.2:n.2228T>G (RAF1)
NM_001354690.3:c.1899T>G (RAF1)	NP_001341619.1:p.Asp633Glu
NM_001354691.3:c.1656T>G (RAF1)	NP_001341620.1:p.Asp552Glu
NM_001354692.3:c.1656T>G (RAF1)	NP_001341621.1:p.Asp552Glu
NM_001354693.3:c.1800T>G (RAF1)	NP_001341622.1:p.Asp600Glu
NM_001354694.3:c.1716T>G (RAF1)	NP_001341623.1:p.Asp572Glu
NM_001354695.3:c.1557T>G (RAF1)	NP_001341624.1:p.Asp519Glu
NM_002880.4:c.1899T>G (RAF1) MANE Select	NP_002871.1:p.Asp633Glu
NR_148940.3:n.2343T>G (RAF1)
NR_148941.3:n.2289T>G (RAF1)
NR_148942.3:n.2228T>G (RAF1)