Canonical Allele Identifier: CA2259381

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 518752
• ClinVar RCV Id: RCV002066928
• dbSNP Id: rs754017289
• ExAC: 3:12626103 G / A
• gnomAD v2: 3-12626103-G-A
• gnomAD v3: 3-12584604-G-A
• gnomAD v4: 3-12584604-G-A
• COSMIC: COSM6033402 ; COSM6033403
• MyVariant Identifiers: chr3:g.12626103G>A (hg19) ; chr3:g.12584604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584604G>A , CM000665.2:g.12584604G>A	GRCh38
NC_000003.11:g.12626103G>A , CM000665.1:g.12626103G>A	GRCh37
NC_000003.10:g.12601103G>A	NCBI36
NG_007467.1:g.84576C>T , LRG_413:g.84576C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1522C>T (RAF1)	ENSP00000401088.1:n.*1522C>T
ENST00000432427.3:c.1174C>T (RAF1)
ENST00000460610.2:n.6169C>T (RAF1)
ENST00000471449.2:n.667C>T (RAF1)
ENST00000475353.2:n.4137C>T (RAF1)
ENST00000684903.1:c.*1534C>T (RAF1)	ENSP00000508612.1:n.*1534C>T
ENST00000685348.1:c.*1568C>T (RAF1)	ENSP00000510285.1:n.*1568C>T
ENST00000685437.1:c.1758C>T (RAF1)	ENSP00000508794.1:p.Ser586=
ENST00000685653.1:c.1857C>T (RAF1)	ENSP00000509968.1:p.Ser619=
ENST00000685697.1:n.2592C>T (RAF1)
ENST00000685738.1:c.*821C>T (RAF1)	ENSP00000510156.1:n.*821C>T
ENST00000686409.1:n.5266C>T (RAF1)
ENST00000686455.1:n.4578C>T (RAF1)
ENST00000686762.1:c.*416C>T (RAF1)	ENSP00000509767.1:n.*416C>T
ENST00000687257.1:n.4311C>T (RAF1)
ENST00000687326.1:c.*3149C>T (RAF1)	ENSP00000509665.1:n.*3149C>T
ENST00000687505.1:n.1975C>T (RAF1)
ENST00000687923.1:c.1746C>T (RAF1)	ENSP00000510255.1:p.Ser582=
ENST00000688269.1:n.2453C>T (RAF1)
ENST00000688444.1:n.3974C>T (RAF1)
ENST00000688543.1:c.1758C>T (RAF1)	ENSP00000509612.1:p.Ser586=
ENST00000688625.1:c.*3226C>T (RAF1)	ENSP00000509522.1:n.*3226C>T
ENST00000688803.1:n.3285C>T (RAF1)
ENST00000689097.1:c.*1534C>T (RAF1)	ENSP00000509756.1:n.*1534C>T
ENST00000689389.1:c.1680C>T (RAF1)	ENSP00000510213.1:p.Ser560=
ENST00000689418.1:c.*3752C>T (RAF1)	ENSP00000509467.1:n.*3752C>T
ENST00000689540.1:n.4225C>T (RAF1)
ENST00000689876.1:c.*406C>T (RAF1)	ENSP00000508535.1:n.*406C>T
ENST00000689914.1:c.*791C>T (RAF1)	ENSP00000509847.1:n.*791C>T
ENST00000690397.1:c.1746C>T (RAF1)	ENSP00000508730.1:p.Ser582=
ENST00000690460.1:c.1845C>T (RAF1)	ENSP00000509106.1:p.Ser615=
ENST00000690585.1:c.583C>T (RAF1)
ENST00000690625.1:n.2893C>T (RAF1)
ENST00000691396.1:c.*1729C>T (RAF1)	ENSP00000510712.1:n.*1729C>T
ENST00000691643.1:n.2910C>T (RAF1)
ENST00000691724.1:c.*814C>T (RAF1)	ENSP00000509255.1:n.*814C>T
ENST00000691779.1:c.*1435C>T (RAF1)	ENSP00000508592.1:n.*1435C>T
ENST00000691888.1:c.731C>T (RAF1)
ENST00000691899.1:c.1857C>T (RAF1)	ENSP00000508763.1:p.Ser619=
ENST00000692069.1:n.4781C>T (RAF1)
ENST00000692093.1:c.1758C>T (RAF1)	ENSP00000509669.1:p.Ser586=
ENST00000692311.1:n.2681C>T (RAF1)
ENST00000692558.1:n.4440C>T (RAF1)
ENST00000692773.1:c.*1594C>T (RAF1)	ENSP00000509055.1:n.*1594C>T
ENST00000692830.1:c.*1602C>T (RAF1)	ENSP00000509461.1:n.*1602C>T
ENST00000693312.1:c.1632C>T (RAF1)	ENSP00000508686.1:p.Ser544=
ENST00000693664.1:c.*308C>T (RAF1)	ENSP00000509614.1:n.*308C>T
ENST00000693705.1:c.*1236C>T (RAF1)	ENSP00000510697.1:n.*1236C>T
ENST00000251849.9:c.1857C>T (RAF1) MANE Select	ENSP00000251849.4:p.Ser619=
ENST00000442415.7:c.1917C>T (RAF1)	ENSP00000401888.2:p.Ser639=
ENST00000676541.1:c.*2351G>A (MKRN2)	ENSP00000503730.1:n.*2351G>A
ENST00000677142.1:c.*2351G>A (MKRN2)	ENSP00000504455.1:n.*2351G>A
ENST00000677816.1:c.*906G>A (MKRN2)	ENSP00000502893.1:n.*906G>A
ENST00000677941.1:n.2414G>A (MKRN2)
ENST00000251849.8:c.1857C>T (RAF1)	ENSP00000251849.4:p.Ser619=
ENST00000423275.5:c.*1534C>T (RAF1)	ENSP00000401088.1:n.*1534C>T
ENST00000432427.2:c.1494C>T (RAF1)	ENSP00000398591.2:p.Ser498=
ENST00000442415.6:c.1917C>T (RAF1)	ENSP00000401888.2:p.Ser639=
ENST00000471449.1:n.546C>T (RAF1)
NM_002880.3:c.1857C>T , LRG_413t1:c.1857C>T (RAF1)	NP_002871.1:p.Ser619=
XM_005265355.1:c.1857C>T (RAF1)	XP_005265412.1:p.Ser619=
XM_005265357.1:c.1758C>T (RAF1)	XP_005265414.1:p.Ser586=
XM_005265358.3:c.1614C>T (RAF1)	XP_005265415.1:p.Ser538=
XM_005265359.3:c.1515C>T (RAF1)	XP_005265416.1:p.Ser505=
XM_011533974.1:c.1857C>T (RAF1)	XP_011532276.1:p.Ser619=
XM_011533975.1:c.1614C>T (RAF1)	XP_011532277.1:p.Ser538=
NM_001354689.1:c.1917C>T (RAF1)	NP_001341618.1:p.Ser639=
NM_001354690.1:c.1857C>T (RAF1)	NP_001341619.1:p.Ser619=
NM_001354691.1:c.1614C>T (RAF1)	NP_001341620.1:p.Ser538=
NM_001354692.1:c.1614C>T (RAF1)	NP_001341621.1:p.Ser538=
NM_001354693.1:c.1758C>T (RAF1)	NP_001341622.1:p.Ser586=
NM_001354694.1:c.1674C>T (RAF1)	NP_001341623.1:p.Ser558=
NM_001354695.1:c.1515C>T (RAF1)	NP_001341624.1:p.Ser505=
NR_148940.1:n.2385C>T (RAF1)
NR_148941.1:n.2331C>T (RAF1)
NR_148942.1:n.2270C>T (RAF1)
XM_011533974.3:c.1857C>T (RAF1)	XP_011532276.1:p.Ser619=
XM_017006966.1:c.1758C>T (RAF1)	XP_016862455.1:p.Ser586=
NM_001354689.3:c.1917C>T (RAF1)	NP_001341618.1:p.Ser639=
NM_001354690.2:c.1857C>T (RAF1)	NP_001341619.1:p.Ser619=
NM_001354691.2:c.1614C>T (RAF1)	NP_001341620.1:p.Ser538=
NM_001354692.2:c.1614C>T (RAF1)	NP_001341621.1:p.Ser538=
NM_001354693.2:c.1758C>T (RAF1)	NP_001341622.1:p.Ser586=
NM_001354694.2:c.1674C>T (RAF1)	NP_001341623.1:p.Ser558=
NM_001354695.2:c.1515C>T (RAF1)	NP_001341624.1:p.Ser505=
NR_148940.2:n.2301C>T (RAF1)
NR_148941.2:n.2247C>T (RAF1)
NR_148942.2:n.2186C>T (RAF1)
NM_001354690.3:c.1857C>T (RAF1)	NP_001341619.1:p.Ser619=
NM_001354691.3:c.1614C>T (RAF1)	NP_001341620.1:p.Ser538=
NM_001354692.3:c.1614C>T (RAF1)	NP_001341621.1:p.Ser538=
NM_001354693.3:c.1758C>T (RAF1)	NP_001341622.1:p.Ser586=
NM_001354694.3:c.1674C>T (RAF1)	NP_001341623.1:p.Ser558=
NM_001354695.3:c.1515C>T (RAF1)	NP_001341624.1:p.Ser505=
NM_002880.4:c.1857C>T (RAF1) MANE Select	NP_002871.1:p.Ser619=
NR_148940.3:n.2301C>T (RAF1)
NR_148941.3:n.2247C>T (RAF1)
NR_148942.3:n.2186C>T (RAF1)