Canonical Allele Identifier: CA2259490

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs571558851
• ExAC: 3:12627193 G / C
• gnomAD v2: 3-12627193-G-C
• gnomAD v3: 3-12585694-G-C
• gnomAD v4: 3-12585694-G-C
• MyVariant Identifiers: chr3:g.12627193G>C (hg19) ; chr3:g.12585694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585694G>C , CM000665.2:g.12585694G>C	GRCh38
NC_000003.11:g.12627193G>C , CM000665.1:g.12627193G>C	GRCh37
NC_000003.10:g.12602193G>C	NCBI36
NG_007467.1:g.83486C>G , LRG_413:g.83486C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1188C>G (RAF1)	ENSP00000401088.1:n.*1188C>G
ENST00000432427.3:c.840C>G (RAF1)
ENST00000460610.2:n.5268C>G (RAF1)
ENST00000471449.2:n.333C>G (RAF1)
ENST00000475353.2:n.3236C>G (RAF1)
ENST00000684903.1:c.*1200C>G (RAF1)	ENSP00000508612.1:n.*1200C>G
ENST00000685348.1:c.*1095-288C>G (RAF1)	ENSP00000510285.1:n.*1095-288C>G
ENST00000685437.1:c.1424C>G (RAF1)	ENSP00000508794.1:p.Ser475Cys
ENST00000685653.1:c.1523C>G (RAF1)	ENSP00000509968.1:p.Ser508Cys
ENST00000685697.1:n.2258C>G (RAF1)
ENST00000685738.1:c.*487C>G (RAF1)	ENSP00000510156.1:n.*487C>G
ENST00000686409.1:n.4365C>G (RAF1)
ENST00000686455.1:n.3677C>G (RAF1)
ENST00000686762.1:c.*82C>G (RAF1)	ENSP00000509767.1:n.*82C>G
ENST00000687257.1:n.3550C>G (RAF1)
ENST00000687326.1:c.*2248C>G (RAF1)	ENSP00000509665.1:n.*2248C>G
ENST00000687505.1:n.1641C>G (RAF1)
ENST00000687923.1:c.1412C>G (RAF1)	ENSP00000510255.1:p.Ser471Cys
ENST00000688269.1:n.2119C>G (RAF1)
ENST00000688444.1:n.3640C>G (RAF1)
ENST00000688543.1:c.1424C>G (RAF1)	ENSP00000509612.1:p.Ser475Cys
ENST00000688625.1:c.*2892C>G (RAF1)	ENSP00000509522.1:n.*2892C>G
ENST00000688803.1:n.2965-441C>G (RAF1)
ENST00000688914.1:n.509C>G (RAF1)
ENST00000689097.1:c.*1200C>G (RAF1)	ENSP00000509756.1:n.*1200C>G
ENST00000689389.1:c.1346C>G (RAF1)	ENSP00000510213.1:p.Ser449Cys
ENST00000689418.1:c.*2991C>G (RAF1)	ENSP00000509467.1:n.*2991C>G
ENST00000689540.1:n.3464C>G (RAF1)
ENST00000689876.1:c.1418-288C>G (RAF1)	ENSP00000508535.1:n.1418-288C>G
ENST00000689914.1:c.*457C>G (RAF1)	ENSP00000509847.1:n.*457C>G
ENST00000690397.1:c.1412C>G (RAF1)	ENSP00000508730.1:p.Ser471Cys
ENST00000690460.1:c.1511C>G (RAF1)	ENSP00000509106.1:p.Ser504Cys
ENST00000690585.1:c.263-441C>G (RAF1)
ENST00000690625.1:n.2559C>G (RAF1)
ENST00000691396.1:c.*1395C>G (RAF1)	ENSP00000510712.1:n.*1395C>G
ENST00000691643.1:n.2149C>G (RAF1)
ENST00000691724.1:c.*480C>G (RAF1)	ENSP00000509255.1:n.*480C>G
ENST00000691779.1:c.*1101C>G (RAF1)	ENSP00000508592.1:n.*1101C>G
ENST00000691888.1:c.397C>G (RAF1)
ENST00000691899.1:c.1523C>G (RAF1)	ENSP00000508763.1:p.Ser508Cys
ENST00000692069.1:n.3880C>G (RAF1)
ENST00000692093.1:c.1424C>G (RAF1)	ENSP00000509669.1:p.Ser475Cys
ENST00000692311.1:n.2347C>G (RAF1)
ENST00000692558.1:n.3679C>G (RAF1)
ENST00000692773.1:c.*1260C>G (RAF1)	ENSP00000509055.1:n.*1260C>G
ENST00000692830.1:c.*1268C>G (RAF1)	ENSP00000509461.1:n.*1268C>G
ENST00000693312.1:c.1298C>G (RAF1)	ENSP00000508686.1:p.Ser433Cys
ENST00000693664.1:c.1488-441C>G (RAF1)	ENSP00000509614.1:n.1488-441C>G
ENST00000693705.1:c.*1048-713C>G (RAF1)	ENSP00000510697.1:n.*1048-713C>G
ENST00000251849.9:c.1523C>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser508Cys
ENST00000442415.7:c.1583C>G (RAF1)	ENSP00000401888.2:p.Ser528Cys
ENST00000676541.1:c.*3441G>C (MKRN2)	ENSP00000503730.1:n.*3441G>C
ENST00000677142.1:c.*3441G>C (MKRN2)	ENSP00000504455.1:n.*3441G>C
ENST00000677816.1:c.*1996G>C (MKRN2)	ENSP00000502893.1:n.*1996G>C
ENST00000677941.1:n.3504G>C (MKRN2)
ENST00000251849.8:c.1523C>G (RAF1)	ENSP00000251849.4:p.Ser508Cys
ENST00000423275.5:c.*1200C>G (RAF1)	ENSP00000401088.1:n.*1200C>G
ENST00000432427.2:c.1160C>G (RAF1)	ENSP00000398591.2:p.Ser387Cys
ENST00000442415.6:c.1583C>G (RAF1)	ENSP00000401888.2:p.Ser528Cys
ENST00000471449.1:n.212C>G (RAF1)
NM_002880.3:c.1523C>G , LRG_413t1:c.1523C>G (RAF1)	NP_002871.1:p.Ser508Cys
XM_005265355.1:c.1523C>G (RAF1)	XP_005265412.1:p.Ser508Cys
XM_005265357.1:c.1424C>G (RAF1)	XP_005265414.1:p.Ser475Cys
XM_005265358.3:c.1280C>G (RAF1)	XP_005265415.1:p.Ser427Cys
XM_005265359.3:c.1181C>G (RAF1)	XP_005265416.1:p.Ser394Cys
XM_005265360.1:c.1418-288C>G (RAF1)	XP_005265417.1:n.1418-288C>G
XM_011533974.1:c.1523C>G (RAF1)	XP_011532276.1:p.Ser508Cys
XM_011533975.1:c.1280C>G (RAF1)	XP_011532277.1:p.Ser427Cys
NM_001354689.1:c.1583C>G (RAF1)	NP_001341618.1:p.Ser528Cys
NM_001354690.1:c.1523C>G (RAF1)	NP_001341619.1:p.Ser508Cys
NM_001354691.1:c.1280C>G (RAF1)	NP_001341620.1:p.Ser427Cys
NM_001354692.1:c.1280C>G (RAF1)	NP_001341621.1:p.Ser427Cys
NM_001354693.1:c.1424C>G (RAF1)	NP_001341622.1:p.Ser475Cys
NM_001354694.1:c.1340C>G (RAF1)	NP_001341623.1:p.Ser447Cys
NM_001354695.1:c.1181C>G (RAF1)	NP_001341624.1:p.Ser394Cys
NR_148940.1:n.2051C>G (RAF1)
NR_148941.1:n.1997C>G (RAF1)
NR_148942.1:n.1936C>G (RAF1)
XM_011533974.3:c.1523C>G (RAF1)	XP_011532276.1:p.Ser508Cys
XM_017006966.1:c.1424C>G (RAF1)	XP_016862455.1:p.Ser475Cys
NM_001354689.3:c.1583C>G (RAF1)	NP_001341618.1:p.Ser528Cys
NM_001354690.2:c.1523C>G (RAF1)	NP_001341619.1:p.Ser508Cys
NM_001354691.2:c.1280C>G (RAF1)	NP_001341620.1:p.Ser427Cys
NM_001354692.2:c.1280C>G (RAF1)	NP_001341621.1:p.Ser427Cys
NM_001354693.2:c.1424C>G (RAF1)	NP_001341622.1:p.Ser475Cys
NM_001354694.2:c.1340C>G (RAF1)	NP_001341623.1:p.Ser447Cys
NM_001354695.2:c.1181C>G (RAF1)	NP_001341624.1:p.Ser394Cys
NR_148940.2:n.1967C>G (RAF1)
NR_148941.2:n.1913C>G (RAF1)
NR_148942.2:n.1852C>G (RAF1)
NM_001354690.3:c.1523C>G (RAF1)	NP_001341619.1:p.Ser508Cys
NM_001354691.3:c.1280C>G (RAF1)	NP_001341620.1:p.Ser427Cys
NM_001354692.3:c.1280C>G (RAF1)	NP_001341621.1:p.Ser427Cys
NM_001354693.3:c.1424C>G (RAF1)	NP_001341622.1:p.Ser475Cys
NM_001354694.3:c.1340C>G (RAF1)	NP_001341623.1:p.Ser447Cys
NM_001354695.3:c.1181C>G (RAF1)	NP_001341624.1:p.Ser394Cys
NM_002880.4:c.1523C>G (RAF1) MANE Select	NP_002871.1:p.Ser508Cys
NR_148940.3:n.1967C>G (RAF1)
NR_148941.3:n.1913C>G (RAF1)
NR_148942.3:n.1852C>G (RAF1)