Canonical Allele Identifier: CA351496693

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 836090
• ClinVar RCV Id: RCV001037131
• dbSNP Id: rs2058276038
• gnomAD v4: 3-12584904-C-G
• MyVariant Identifiers: chr3:g.12626403C>G (hg19) ; chr3:g.12584904C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584904C>G , CM000665.2:g.12584904C>G	GRCh38
NC_000003.11:g.12626403C>G , CM000665.1:g.12626403C>G	GRCh37
NC_000003.10:g.12601403C>G	NCBI36
NG_007467.1:g.84276G>C , LRG_413:g.84276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1411G>C (RAF1)	ENSP00000401088.1:n.*1411G>C
ENST00000432427.3:c.1063G>C (RAF1)
ENST00000460610.2:n.6058G>C (RAF1)
ENST00000471449.2:n.556G>C (RAF1)
ENST00000475353.2:n.4026G>C (RAF1)
ENST00000684903.1:c.*1423G>C (RAF1)	ENSP00000508612.1:n.*1423G>C
ENST00000685348.1:c.*1457G>C (RAF1)	ENSP00000510285.1:n.*1457G>C
ENST00000685437.1:c.1647G>C (RAF1)	ENSP00000508794.1:p.Lys549Asn
ENST00000685653.1:c.1746G>C (RAF1)	ENSP00000509968.1:p.Lys582Asn
ENST00000685697.1:n.2481G>C (RAF1)
ENST00000685738.1:c.*710G>C (RAF1)	ENSP00000510156.1:n.*710G>C
ENST00000686409.1:n.5155G>C (RAF1)
ENST00000686455.1:n.4467G>C (RAF1)
ENST00000686762.1:c.*305G>C (RAF1)	ENSP00000509767.1:n.*305G>C
ENST00000687257.1:n.4200G>C (RAF1)
ENST00000687326.1:c.*3038G>C (RAF1)	ENSP00000509665.1:n.*3038G>C
ENST00000687505.1:n.1864G>C (RAF1)
ENST00000687923.1:c.1635G>C (RAF1)	ENSP00000510255.1:p.Lys545Asn
ENST00000688269.1:n.2342G>C (RAF1)
ENST00000688444.1:n.3863G>C (RAF1)
ENST00000688543.1:c.1647G>C (RAF1)	ENSP00000509612.1:p.Lys549Asn
ENST00000688625.1:c.*3115G>C (RAF1)	ENSP00000509522.1:n.*3115G>C
ENST00000688803.1:n.3174G>C (RAF1)
ENST00000688914.1:n.1159G>C (RAF1)
ENST00000689097.1:c.*1423G>C (RAF1)	ENSP00000509756.1:n.*1423G>C
ENST00000689389.1:c.1569G>C (RAF1)	ENSP00000510213.1:p.Lys523Asn
ENST00000689418.1:c.*3641G>C (RAF1)	ENSP00000509467.1:n.*3641G>C
ENST00000689540.1:n.4114G>C (RAF1)
ENST00000689876.1:c.*295G>C (RAF1)	ENSP00000508535.1:n.*295G>C
ENST00000689914.1:c.*680G>C (RAF1)	ENSP00000509847.1:n.*680G>C
ENST00000690397.1:c.1635G>C (RAF1)	ENSP00000508730.1:p.Lys545Asn
ENST00000690460.1:c.1734G>C (RAF1)	ENSP00000509106.1:p.Lys578Asn
ENST00000690585.1:c.472G>C (RAF1)
ENST00000690625.1:n.2782G>C (RAF1)
ENST00000691396.1:c.*1618G>C (RAF1)	ENSP00000510712.1:n.*1618G>C
ENST00000691643.1:n.2799G>C (RAF1)
ENST00000691724.1:c.*703G>C (RAF1)	ENSP00000509255.1:n.*703G>C
ENST00000691779.1:c.*1324G>C (RAF1)	ENSP00000508592.1:n.*1324G>C
ENST00000691888.1:c.620G>C (RAF1)
ENST00000691899.1:c.1746G>C (RAF1)	ENSP00000508763.1:p.Lys582Asn
ENST00000692069.1:n.4670G>C (RAF1)
ENST00000692093.1:c.1647G>C (RAF1)	ENSP00000509669.1:p.Lys549Asn
ENST00000692311.1:n.2570G>C (RAF1)
ENST00000692558.1:n.4329G>C (RAF1)
ENST00000692773.1:c.*1483G>C (RAF1)	ENSP00000509055.1:n.*1483G>C
ENST00000692830.1:c.*1491G>C (RAF1)	ENSP00000509461.1:n.*1491G>C
ENST00000693312.1:c.1521G>C (RAF1)	ENSP00000508686.1:p.Lys507Asn
ENST00000693664.1:c.*197G>C (RAF1)	ENSP00000509614.1:n.*197G>C
ENST00000693705.1:c.*1125G>C (RAF1)	ENSP00000510697.1:n.*1125G>C
ENST00000251849.9:c.1746G>C (RAF1) MANE Select	ENSP00000251849.4:p.Lys582Asn
ENST00000442415.7:c.1806G>C (RAF1)	ENSP00000401888.2:p.Lys602Asn
ENST00000676541.1:c.*2651C>G (MKRN2)	ENSP00000503730.1:n.*2651C>G
ENST00000677142.1:c.*2651C>G (MKRN2)	ENSP00000504455.1:n.*2651C>G
ENST00000677816.1:c.*1206C>G (MKRN2)	ENSP00000502893.1:n.*1206C>G
ENST00000677941.1:n.2714C>G (MKRN2)
ENST00000251849.8:c.1746G>C (RAF1)	ENSP00000251849.4:p.Lys582Asn
ENST00000423275.5:c.*1423G>C (RAF1)	ENSP00000401088.1:n.*1423G>C
ENST00000432427.2:c.1383G>C (RAF1)	ENSP00000398591.2:p.Lys461Asn
ENST00000442415.6:c.1806G>C (RAF1)	ENSP00000401888.2:p.Lys602Asn
ENST00000471449.1:n.435G>C (RAF1)
NM_002880.3:c.1746G>C , LRG_413t1:c.1746G>C (RAF1)	NP_002871.1:p.Lys582Asn
XM_005265355.1:c.1746G>C (RAF1)	XP_005265412.1:p.Lys582Asn
XM_005265357.1:c.1647G>C (RAF1)	XP_005265414.1:p.Lys549Asn
XM_005265358.3:c.1503G>C (RAF1)	XP_005265415.1:p.Lys501Asn
XM_005265359.3:c.1404G>C (RAF1)	XP_005265416.1:p.Lys468Asn
XM_011533974.1:c.1746G>C (RAF1)	XP_011532276.1:p.Lys582Asn
XM_011533975.1:c.1503G>C (RAF1)	XP_011532277.1:p.Lys501Asn
NM_001354689.1:c.1806G>C (RAF1)	NP_001341618.1:p.Lys602Asn
NM_001354690.1:c.1746G>C (RAF1)	NP_001341619.1:p.Lys582Asn
NM_001354691.1:c.1503G>C (RAF1)	NP_001341620.1:p.Lys501Asn
NM_001354692.1:c.1503G>C (RAF1)	NP_001341621.1:p.Lys501Asn
NM_001354693.1:c.1647G>C (RAF1)	NP_001341622.1:p.Lys549Asn
NM_001354694.1:c.1563G>C (RAF1)	NP_001341623.1:p.Lys521Asn
NM_001354695.1:c.1404G>C (RAF1)	NP_001341624.1:p.Lys468Asn
NR_148940.1:n.2274G>C (RAF1)
NR_148941.1:n.2220G>C (RAF1)
NR_148942.1:n.2159G>C (RAF1)
XM_011533974.3:c.1746G>C (RAF1)	XP_011532276.1:p.Lys582Asn
XM_017006966.1:c.1647G>C (RAF1)	XP_016862455.1:p.Lys549Asn
NM_001354689.3:c.1806G>C (RAF1)	NP_001341618.1:p.Lys602Asn
NM_001354690.2:c.1746G>C (RAF1)	NP_001341619.1:p.Lys582Asn
NM_001354691.2:c.1503G>C (RAF1)	NP_001341620.1:p.Lys501Asn
NM_001354692.2:c.1503G>C (RAF1)	NP_001341621.1:p.Lys501Asn
NM_001354693.2:c.1647G>C (RAF1)	NP_001341622.1:p.Lys549Asn
NM_001354694.2:c.1563G>C (RAF1)	NP_001341623.1:p.Lys521Asn
NM_001354695.2:c.1404G>C (RAF1)	NP_001341624.1:p.Lys468Asn
NR_148940.2:n.2190G>C (RAF1)
NR_148941.2:n.2136G>C (RAF1)
NR_148942.2:n.2075G>C (RAF1)
NM_001354690.3:c.1746G>C (RAF1)	NP_001341619.1:p.Lys582Asn
NM_001354691.3:c.1503G>C (RAF1)	NP_001341620.1:p.Lys501Asn
NM_001354692.3:c.1503G>C (RAF1)	NP_001341621.1:p.Lys501Asn
NM_001354693.3:c.1647G>C (RAF1)	NP_001341622.1:p.Lys549Asn
NM_001354694.3:c.1563G>C (RAF1)	NP_001341623.1:p.Lys521Asn
NM_001354695.3:c.1404G>C (RAF1)	NP_001341624.1:p.Lys468Asn
NM_002880.4:c.1746G>C (RAF1) MANE Select	NP_002871.1:p.Lys582Asn
NR_148940.3:n.2190G>C (RAF1)
NR_148941.3:n.2136G>C (RAF1)
NR_148942.3:n.2075G>C (RAF1)