Canonical Allele Identifier: CA180851

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 177842
• ClinVar RCV Id: RCV000154479 ; RCV000309941 ; RCV000407178 ; RCV000623835 ; RCV000692399 ; RCV001543110 ; RCV001719956 ; RCV002399538 ; RCV003965146
• dbSNP Id: rs370242565
• ExAC: 3:12626428 T / C
• gnomAD v2: 3-12626428-T-C
• gnomAD v3: 3-12584929-T-C
• gnomAD v4: 3-12584929-T-C
• MyVariant Identifiers: chr3:g.12626428T>C (hg19) ; chr3:g.12584929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584929T>C , CM000665.2:g.12584929T>C	GRCh38
NC_000003.11:g.12626428T>C , CM000665.1:g.12626428T>C	GRCh37
NC_000003.10:g.12601428T>C	NCBI36
NG_007467.1:g.84251A>G , LRG_413:g.84251A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1386A>G (RAF1)	ENSP00000401088.1:n.*1386A>G
ENST00000432427.3:c.1038A>G (RAF1)
ENST00000460610.2:n.6033A>G (RAF1)
ENST00000471449.2:n.531A>G (RAF1)
ENST00000475353.2:n.4001A>G (RAF1)
ENST00000684903.1:c.*1398A>G (RAF1)	ENSP00000508612.1:n.*1398A>G
ENST00000685348.1:c.*1432A>G (RAF1)	ENSP00000510285.1:n.*1432A>G
ENST00000685437.1:c.1622A>G (RAF1)	ENSP00000508794.1:p.Tyr541Cys
ENST00000685653.1:c.1721A>G (RAF1)	ENSP00000509968.1:p.Tyr574Cys
ENST00000685697.1:n.2456A>G (RAF1)
ENST00000685738.1:c.*685A>G (RAF1)	ENSP00000510156.1:n.*685A>G
ENST00000686409.1:n.5130A>G (RAF1)
ENST00000686455.1:n.4442A>G (RAF1)
ENST00000686762.1:c.*280A>G (RAF1)	ENSP00000509767.1:n.*280A>G
ENST00000687257.1:n.4175A>G (RAF1)
ENST00000687326.1:c.*3013A>G (RAF1)	ENSP00000509665.1:n.*3013A>G
ENST00000687505.1:n.1839A>G (RAF1)
ENST00000687923.1:c.1610A>G (RAF1)	ENSP00000510255.1:p.Tyr537Cys
ENST00000688269.1:n.2317A>G (RAF1)
ENST00000688444.1:n.3838A>G (RAF1)
ENST00000688543.1:c.1622A>G (RAF1)	ENSP00000509612.1:p.Tyr541Cys
ENST00000688625.1:c.*3090A>G (RAF1)	ENSP00000509522.1:n.*3090A>G
ENST00000688803.1:n.3149A>G (RAF1)
ENST00000688914.1:n.1134A>G (RAF1)
ENST00000689097.1:c.*1398A>G (RAF1)	ENSP00000509756.1:n.*1398A>G
ENST00000689389.1:c.1544A>G (RAF1)	ENSP00000510213.1:p.Tyr515Cys
ENST00000689418.1:c.*3616A>G (RAF1)	ENSP00000509467.1:n.*3616A>G
ENST00000689540.1:n.4089A>G (RAF1)
ENST00000689876.1:c.*270A>G (RAF1)	ENSP00000508535.1:n.*270A>G
ENST00000689914.1:c.*655A>G (RAF1)	ENSP00000509847.1:n.*655A>G
ENST00000690397.1:c.1610A>G (RAF1)	ENSP00000508730.1:p.Tyr537Cys
ENST00000690460.1:c.1709A>G (RAF1)	ENSP00000509106.1:p.Tyr570Cys
ENST00000690585.1:c.447A>G (RAF1)
ENST00000690625.1:n.2757A>G (RAF1)
ENST00000691396.1:c.*1593A>G (RAF1)	ENSP00000510712.1:n.*1593A>G
ENST00000691643.1:n.2774A>G (RAF1)
ENST00000691724.1:c.*678A>G (RAF1)	ENSP00000509255.1:n.*678A>G
ENST00000691779.1:c.*1299A>G (RAF1)	ENSP00000508592.1:n.*1299A>G
ENST00000691888.1:c.595A>G (RAF1)
ENST00000691899.1:c.1721A>G (RAF1)	ENSP00000508763.1:p.Tyr574Cys
ENST00000692069.1:n.4645A>G (RAF1)
ENST00000692093.1:c.1622A>G (RAF1)	ENSP00000509669.1:p.Tyr541Cys
ENST00000692311.1:n.2545A>G (RAF1)
ENST00000692558.1:n.4304A>G (RAF1)
ENST00000692773.1:c.*1458A>G (RAF1)	ENSP00000509055.1:n.*1458A>G
ENST00000692830.1:c.*1466A>G (RAF1)	ENSP00000509461.1:n.*1466A>G
ENST00000693312.1:c.1496A>G (RAF1)	ENSP00000508686.1:p.Tyr499Cys
ENST00000693664.1:c.*172A>G (RAF1)	ENSP00000509614.1:n.*172A>G
ENST00000693705.1:c.*1100A>G (RAF1)	ENSP00000510697.1:n.*1100A>G
ENST00000251849.9:c.1721A>G (RAF1) MANE Select	ENSP00000251849.4:p.Tyr574Cys
ENST00000442415.7:c.1781A>G (RAF1)	ENSP00000401888.2:p.Tyr594Cys
ENST00000676541.1:c.*2676T>C (MKRN2)	ENSP00000503730.1:n.*2676T>C
ENST00000677142.1:c.*2676T>C (MKRN2)	ENSP00000504455.1:n.*2676T>C
ENST00000677816.1:c.*1231T>C (MKRN2)	ENSP00000502893.1:n.*1231T>C
ENST00000677941.1:n.2739T>C (MKRN2)
ENST00000251849.8:c.1721A>G (RAF1)	ENSP00000251849.4:p.Tyr574Cys
ENST00000423275.5:c.*1398A>G (RAF1)	ENSP00000401088.1:n.*1398A>G
ENST00000432427.2:c.1358A>G (RAF1)	ENSP00000398591.2:p.Tyr453Cys
ENST00000442415.6:c.1781A>G (RAF1)	ENSP00000401888.2:p.Tyr594Cys
ENST00000471449.1:n.410A>G (RAF1)
NM_002880.3:c.1721A>G , LRG_413t1:c.1721A>G (RAF1)	NP_002871.1:p.Tyr574Cys
XM_005265355.1:c.1721A>G (RAF1)	XP_005265412.1:p.Tyr574Cys
XM_005265357.1:c.1622A>G (RAF1)	XP_005265414.1:p.Tyr541Cys
XM_005265358.3:c.1478A>G (RAF1)	XP_005265415.1:p.Tyr493Cys
XM_005265359.3:c.1379A>G (RAF1)	XP_005265416.1:p.Tyr460Cys
XM_011533974.1:c.1721A>G (RAF1)	XP_011532276.1:p.Tyr574Cys
XM_011533975.1:c.1478A>G (RAF1)	XP_011532277.1:p.Tyr493Cys
NM_001354689.1:c.1781A>G (RAF1)	NP_001341618.1:p.Tyr594Cys
NM_001354690.1:c.1721A>G (RAF1)	NP_001341619.1:p.Tyr574Cys
NM_001354691.1:c.1478A>G (RAF1)	NP_001341620.1:p.Tyr493Cys
NM_001354692.1:c.1478A>G (RAF1)	NP_001341621.1:p.Tyr493Cys
NM_001354693.1:c.1622A>G (RAF1)	NP_001341622.1:p.Tyr541Cys
NM_001354694.1:c.1538A>G (RAF1)	NP_001341623.1:p.Tyr513Cys
NM_001354695.1:c.1379A>G (RAF1)	NP_001341624.1:p.Tyr460Cys
NR_148940.1:n.2249A>G (RAF1)
NR_148941.1:n.2195A>G (RAF1)
NR_148942.1:n.2134A>G (RAF1)
XM_011533974.3:c.1721A>G (RAF1)	XP_011532276.1:p.Tyr574Cys
XM_017006966.1:c.1622A>G (RAF1)	XP_016862455.1:p.Tyr541Cys
NM_001354689.3:c.1781A>G (RAF1)	NP_001341618.1:p.Tyr594Cys
NM_001354690.2:c.1721A>G (RAF1)	NP_001341619.1:p.Tyr574Cys
NM_001354691.2:c.1478A>G (RAF1)	NP_001341620.1:p.Tyr493Cys
NM_001354692.2:c.1478A>G (RAF1)	NP_001341621.1:p.Tyr493Cys
NM_001354693.2:c.1622A>G (RAF1)	NP_001341622.1:p.Tyr541Cys
NM_001354694.2:c.1538A>G (RAF1)	NP_001341623.1:p.Tyr513Cys
NM_001354695.2:c.1379A>G (RAF1)	NP_001341624.1:p.Tyr460Cys
NR_148940.2:n.2165A>G (RAF1)
NR_148941.2:n.2111A>G (RAF1)
NR_148942.2:n.2050A>G (RAF1)
NM_001354690.3:c.1721A>G (RAF1)	NP_001341619.1:p.Tyr574Cys
NM_001354691.3:c.1478A>G (RAF1)	NP_001341620.1:p.Tyr493Cys
NM_001354692.3:c.1478A>G (RAF1)	NP_001341621.1:p.Tyr493Cys
NM_001354693.3:c.1622A>G (RAF1)	NP_001341622.1:p.Tyr541Cys
NM_001354694.3:c.1538A>G (RAF1)	NP_001341623.1:p.Tyr513Cys
NM_001354695.3:c.1379A>G (RAF1)	NP_001341624.1:p.Tyr460Cys
NM_002880.4:c.1721A>G (RAF1) MANE Select	NP_002871.1:p.Tyr574Cys
NR_148940.3:n.2165A>G (RAF1)
NR_148941.3:n.2111A>G (RAF1)
NR_148942.3:n.2050A>G (RAF1)