Canonical Allele Identifier: CA351496038

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs1349440863
• gnomAD v3: 3-12584617-T-C
• gnomAD v4: 3-12584617-T-C
• MyVariant Identifiers: chr3:g.12626116T>C (hg19) ; chr3:g.12584617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584617T>C , CM000665.2:g.12584617T>C	GRCh38
NC_000003.11:g.12626116T>C , CM000665.1:g.12626116T>C	GRCh37
NC_000003.10:g.12601116T>C	NCBI36
NG_007467.1:g.84563A>G , LRG_413:g.84563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1509A>G (RAF1)	ENSP00000401088.1:n.*1509A>G
ENST00000432427.3:c.1161A>G (RAF1)
ENST00000460610.2:n.6156A>G (RAF1)
ENST00000471449.2:n.654A>G (RAF1)
ENST00000475353.2:n.4124A>G (RAF1)
ENST00000684903.1:c.*1521A>G (RAF1)	ENSP00000508612.1:n.*1521A>G
ENST00000685348.1:c.*1555A>G (RAF1)	ENSP00000510285.1:n.*1555A>G
ENST00000685437.1:c.1745A>G (RAF1)	ENSP00000508794.1:p.Lys582Arg
ENST00000685653.1:c.1844A>G (RAF1)	ENSP00000509968.1:p.Lys615Arg
ENST00000685697.1:n.2579A>G (RAF1)
ENST00000685738.1:c.*808A>G (RAF1)	ENSP00000510156.1:n.*808A>G
ENST00000686409.1:n.5253A>G (RAF1)
ENST00000686455.1:n.4565A>G (RAF1)
ENST00000686762.1:c.*403A>G (RAF1)	ENSP00000509767.1:n.*403A>G
ENST00000687257.1:n.4298A>G (RAF1)
ENST00000687326.1:c.*3136A>G (RAF1)	ENSP00000509665.1:n.*3136A>G
ENST00000687505.1:n.1962A>G (RAF1)
ENST00000687923.1:c.1733A>G (RAF1)	ENSP00000510255.1:p.Lys578Arg
ENST00000688269.1:n.2440A>G (RAF1)
ENST00000688444.1:n.3961A>G (RAF1)
ENST00000688543.1:c.1745A>G (RAF1)	ENSP00000509612.1:p.Lys582Arg
ENST00000688625.1:c.*3213A>G (RAF1)	ENSP00000509522.1:n.*3213A>G
ENST00000688803.1:n.3272A>G (RAF1)
ENST00000689097.1:c.*1521A>G (RAF1)	ENSP00000509756.1:n.*1521A>G
ENST00000689389.1:c.1667A>G (RAF1)	ENSP00000510213.1:p.Lys556Arg
ENST00000689418.1:c.*3739A>G (RAF1)	ENSP00000509467.1:n.*3739A>G
ENST00000689540.1:n.4212A>G (RAF1)
ENST00000689876.1:c.*393A>G (RAF1)	ENSP00000508535.1:n.*393A>G
ENST00000689914.1:c.*778A>G (RAF1)	ENSP00000509847.1:n.*778A>G
ENST00000690397.1:c.1733A>G (RAF1)	ENSP00000508730.1:p.Lys578Arg
ENST00000690460.1:c.1832A>G (RAF1)	ENSP00000509106.1:p.Lys611Arg
ENST00000690585.1:c.570A>G (RAF1)
ENST00000690625.1:n.2880A>G (RAF1)
ENST00000691396.1:c.*1716A>G (RAF1)	ENSP00000510712.1:n.*1716A>G
ENST00000691643.1:n.2897A>G (RAF1)
ENST00000691724.1:c.*801A>G (RAF1)	ENSP00000509255.1:n.*801A>G
ENST00000691779.1:c.*1422A>G (RAF1)	ENSP00000508592.1:n.*1422A>G
ENST00000691888.1:c.718A>G (RAF1)
ENST00000691899.1:c.1844A>G (RAF1)	ENSP00000508763.1:p.Lys615Arg
ENST00000692069.1:n.4768A>G (RAF1)
ENST00000692093.1:c.1745A>G (RAF1)	ENSP00000509669.1:p.Lys582Arg
ENST00000692311.1:n.2668A>G (RAF1)
ENST00000692558.1:n.4427A>G (RAF1)
ENST00000692773.1:c.*1581A>G (RAF1)	ENSP00000509055.1:n.*1581A>G
ENST00000692830.1:c.*1589A>G (RAF1)	ENSP00000509461.1:n.*1589A>G
ENST00000693312.1:c.1619A>G (RAF1)	ENSP00000508686.1:p.Lys540Arg
ENST00000693664.1:c.*295A>G (RAF1)	ENSP00000509614.1:n.*295A>G
ENST00000693705.1:c.*1223A>G (RAF1)	ENSP00000510697.1:n.*1223A>G
ENST00000251849.9:c.1844A>G (RAF1) MANE Select	ENSP00000251849.4:p.Lys615Arg
ENST00000442415.7:c.1904A>G (RAF1)	ENSP00000401888.2:p.Lys635Arg
ENST00000676541.1:c.*2364T>C (MKRN2)	ENSP00000503730.1:n.*2364T>C
ENST00000677142.1:c.*2364T>C (MKRN2)	ENSP00000504455.1:n.*2364T>C
ENST00000677816.1:c.*919T>C (MKRN2)	ENSP00000502893.1:n.*919T>C
ENST00000677941.1:n.2427T>C (MKRN2)
ENST00000251849.8:c.1844A>G (RAF1)	ENSP00000251849.4:p.Lys615Arg
ENST00000423275.5:c.*1521A>G (RAF1)	ENSP00000401088.1:n.*1521A>G
ENST00000432427.2:c.1481A>G (RAF1)	ENSP00000398591.2:p.Lys494Arg
ENST00000442415.6:c.1904A>G (RAF1)	ENSP00000401888.2:p.Lys635Arg
ENST00000471449.1:n.533A>G (RAF1)
NM_002880.3:c.1844A>G , LRG_413t1:c.1844A>G (RAF1)	NP_002871.1:p.Lys615Arg
XM_005265355.1:c.1844A>G (RAF1)	XP_005265412.1:p.Lys615Arg
XM_005265357.1:c.1745A>G (RAF1)	XP_005265414.1:p.Lys582Arg
XM_005265358.3:c.1601A>G (RAF1)	XP_005265415.1:p.Lys534Arg
XM_005265359.3:c.1502A>G (RAF1)	XP_005265416.1:p.Lys501Arg
XM_011533974.1:c.1844A>G (RAF1)	XP_011532276.1:p.Lys615Arg
XM_011533975.1:c.1601A>G (RAF1)	XP_011532277.1:p.Lys534Arg
NM_001354689.1:c.1904A>G (RAF1)	NP_001341618.1:p.Lys635Arg
NM_001354690.1:c.1844A>G (RAF1)	NP_001341619.1:p.Lys615Arg
NM_001354691.1:c.1601A>G (RAF1)	NP_001341620.1:p.Lys534Arg
NM_001354692.1:c.1601A>G (RAF1)	NP_001341621.1:p.Lys534Arg
NM_001354693.1:c.1745A>G (RAF1)	NP_001341622.1:p.Lys582Arg
NM_001354694.1:c.1661A>G (RAF1)	NP_001341623.1:p.Lys554Arg
NM_001354695.1:c.1502A>G (RAF1)	NP_001341624.1:p.Lys501Arg
NR_148940.1:n.2372A>G (RAF1)
NR_148941.1:n.2318A>G (RAF1)
NR_148942.1:n.2257A>G (RAF1)
XM_011533974.3:c.1844A>G (RAF1)	XP_011532276.1:p.Lys615Arg
XM_017006966.1:c.1745A>G (RAF1)	XP_016862455.1:p.Lys582Arg
NM_001354689.3:c.1904A>G (RAF1)	NP_001341618.1:p.Lys635Arg
NM_001354690.2:c.1844A>G (RAF1)	NP_001341619.1:p.Lys615Arg
NM_001354691.2:c.1601A>G (RAF1)	NP_001341620.1:p.Lys534Arg
NM_001354692.2:c.1601A>G (RAF1)	NP_001341621.1:p.Lys534Arg
NM_001354693.2:c.1745A>G (RAF1)	NP_001341622.1:p.Lys582Arg
NM_001354694.2:c.1661A>G (RAF1)	NP_001341623.1:p.Lys554Arg
NM_001354695.2:c.1502A>G (RAF1)	NP_001341624.1:p.Lys501Arg
NR_148940.2:n.2288A>G (RAF1)
NR_148941.2:n.2234A>G (RAF1)
NR_148942.2:n.2173A>G (RAF1)
NM_001354690.3:c.1844A>G (RAF1)	NP_001341619.1:p.Lys615Arg
NM_001354691.3:c.1601A>G (RAF1)	NP_001341620.1:p.Lys534Arg
NM_001354692.3:c.1601A>G (RAF1)	NP_001341621.1:p.Lys534Arg
NM_001354693.3:c.1745A>G (RAF1)	NP_001341622.1:p.Lys582Arg
NM_001354694.3:c.1661A>G (RAF1)	NP_001341623.1:p.Lys554Arg
NM_001354695.3:c.1502A>G (RAF1)	NP_001341624.1:p.Lys501Arg
NM_002880.4:c.1844A>G (RAF1) MANE Select	NP_002871.1:p.Lys615Arg
NR_148940.3:n.2288A>G (RAF1)
NR_148941.3:n.2234A>G (RAF1)
NR_148942.3:n.2173A>G (RAF1)