Canonical Allele Identifier: CA351496402

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 2100649
• ClinVar RCV Id: RCV003025934
• MyVariant Identifiers: chr3:g.12626350G>C (hg19) ; chr3:g.12584851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584851G>C , CM000665.2:g.12584851G>C	GRCh38
NC_000003.11:g.12626350G>C , CM000665.1:g.12626350G>C	GRCh37
NC_000003.10:g.12601350G>C	NCBI36
NG_007467.1:g.84329C>G , LRG_413:g.84329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1464C>G (RAF1)	ENSP00000401088.1:n.*1464C>G
ENST00000432427.3:c.1116C>G (RAF1)
ENST00000460610.2:n.6111C>G (RAF1)
ENST00000471449.2:n.609C>G (RAF1)
ENST00000475353.2:n.4079C>G (RAF1)
ENST00000684903.1:c.*1476C>G (RAF1)	ENSP00000508612.1:n.*1476C>G
ENST00000685348.1:c.*1510C>G (RAF1)	ENSP00000510285.1:n.*1510C>G
ENST00000685437.1:c.1700C>G (RAF1)	ENSP00000508794.1:p.Pro567Arg
ENST00000685653.1:c.1799C>G (RAF1)	ENSP00000509968.1:p.Pro600Arg
ENST00000685697.1:n.2534C>G (RAF1)
ENST00000685738.1:c.*763C>G (RAF1)	ENSP00000510156.1:n.*763C>G
ENST00000686409.1:n.5208C>G (RAF1)
ENST00000686455.1:n.4520C>G (RAF1)
ENST00000686762.1:c.*358C>G (RAF1)	ENSP00000509767.1:n.*358C>G
ENST00000687257.1:n.4253C>G (RAF1)
ENST00000687326.1:c.*3091C>G (RAF1)	ENSP00000509665.1:n.*3091C>G
ENST00000687505.1:n.1917C>G (RAF1)
ENST00000687923.1:c.1688C>G (RAF1)	ENSP00000510255.1:p.Pro563Arg
ENST00000688269.1:n.2395C>G (RAF1)
ENST00000688444.1:n.3916C>G (RAF1)
ENST00000688543.1:c.1700C>G (RAF1)	ENSP00000509612.1:p.Pro567Arg
ENST00000688625.1:c.*3168C>G (RAF1)	ENSP00000509522.1:n.*3168C>G
ENST00000688803.1:n.3227C>G (RAF1)
ENST00000689097.1:c.*1476C>G (RAF1)	ENSP00000509756.1:n.*1476C>G
ENST00000689389.1:c.1622C>G (RAF1)	ENSP00000510213.1:p.Pro541Arg
ENST00000689418.1:c.*3694C>G (RAF1)	ENSP00000509467.1:n.*3694C>G
ENST00000689540.1:n.4167C>G (RAF1)
ENST00000689876.1:c.*348C>G (RAF1)	ENSP00000508535.1:n.*348C>G
ENST00000689914.1:c.*733C>G (RAF1)	ENSP00000509847.1:n.*733C>G
ENST00000690397.1:c.1688C>G (RAF1)	ENSP00000508730.1:p.Pro563Arg
ENST00000690460.1:c.1787C>G (RAF1)	ENSP00000509106.1:p.Pro596Arg
ENST00000690585.1:c.525C>G (RAF1)
ENST00000690625.1:n.2835C>G (RAF1)
ENST00000691396.1:c.*1671C>G (RAF1)	ENSP00000510712.1:n.*1671C>G
ENST00000691643.1:n.2852C>G (RAF1)
ENST00000691724.1:c.*756C>G (RAF1)	ENSP00000509255.1:n.*756C>G
ENST00000691779.1:c.*1377C>G (RAF1)	ENSP00000508592.1:n.*1377C>G
ENST00000691888.1:c.673C>G (RAF1)
ENST00000691899.1:c.1799C>G (RAF1)	ENSP00000508763.1:p.Pro600Arg
ENST00000692069.1:n.4723C>G (RAF1)
ENST00000692093.1:c.1700C>G (RAF1)	ENSP00000509669.1:p.Pro567Arg
ENST00000692311.1:n.2623C>G (RAF1)
ENST00000692558.1:n.4382C>G (RAF1)
ENST00000692773.1:c.*1536C>G (RAF1)	ENSP00000509055.1:n.*1536C>G
ENST00000692830.1:c.*1544C>G (RAF1)	ENSP00000509461.1:n.*1544C>G
ENST00000693312.1:c.1574C>G (RAF1)	ENSP00000508686.1:p.Pro525Arg
ENST00000693664.1:c.*250C>G (RAF1)	ENSP00000509614.1:n.*250C>G
ENST00000693705.1:c.*1178C>G (RAF1)	ENSP00000510697.1:n.*1178C>G
ENST00000251849.9:c.1799C>G (RAF1) MANE Select	ENSP00000251849.4:p.Pro600Arg
ENST00000442415.7:c.1859C>G (RAF1)	ENSP00000401888.2:p.Pro620Arg
ENST00000676541.1:c.*2598G>C (MKRN2)	ENSP00000503730.1:n.*2598G>C
ENST00000677142.1:c.*2598G>C (MKRN2)	ENSP00000504455.1:n.*2598G>C
ENST00000677816.1:c.*1153G>C (MKRN2)	ENSP00000502893.1:n.*1153G>C
ENST00000677941.1:n.2661G>C (MKRN2)
ENST00000251849.8:c.1799C>G (RAF1)	ENSP00000251849.4:p.Pro600Arg
ENST00000423275.5:c.*1476C>G (RAF1)	ENSP00000401088.1:n.*1476C>G
ENST00000432427.2:c.1436C>G (RAF1)	ENSP00000398591.2:p.Pro479Arg
ENST00000442415.6:c.1859C>G (RAF1)	ENSP00000401888.2:p.Pro620Arg
ENST00000471449.1:n.488C>G (RAF1)
NM_002880.3:c.1799C>G , LRG_413t1:c.1799C>G (RAF1)	NP_002871.1:p.Pro600Arg
XM_005265355.1:c.1799C>G (RAF1)	XP_005265412.1:p.Pro600Arg
XM_005265357.1:c.1700C>G (RAF1)	XP_005265414.1:p.Pro567Arg
XM_005265358.3:c.1556C>G (RAF1)	XP_005265415.1:p.Pro519Arg
XM_005265359.3:c.1457C>G (RAF1)	XP_005265416.1:p.Pro486Arg
XM_011533974.1:c.1799C>G (RAF1)	XP_011532276.1:p.Pro600Arg
XM_011533975.1:c.1556C>G (RAF1)	XP_011532277.1:p.Pro519Arg
NM_001354689.1:c.1859C>G (RAF1)	NP_001341618.1:p.Pro620Arg
NM_001354690.1:c.1799C>G (RAF1)	NP_001341619.1:p.Pro600Arg
NM_001354691.1:c.1556C>G (RAF1)	NP_001341620.1:p.Pro519Arg
NM_001354692.1:c.1556C>G (RAF1)	NP_001341621.1:p.Pro519Arg
NM_001354693.1:c.1700C>G (RAF1)	NP_001341622.1:p.Pro567Arg
NM_001354694.1:c.1616C>G (RAF1)	NP_001341623.1:p.Pro539Arg
NM_001354695.1:c.1457C>G (RAF1)	NP_001341624.1:p.Pro486Arg
NR_148940.1:n.2327C>G (RAF1)
NR_148941.1:n.2273C>G (RAF1)
NR_148942.1:n.2212C>G (RAF1)
XM_011533974.3:c.1799C>G (RAF1)	XP_011532276.1:p.Pro600Arg
XM_017006966.1:c.1700C>G (RAF1)	XP_016862455.1:p.Pro567Arg
NM_001354689.3:c.1859C>G (RAF1)	NP_001341618.1:p.Pro620Arg
NM_001354690.2:c.1799C>G (RAF1)	NP_001341619.1:p.Pro600Arg
NM_001354691.2:c.1556C>G (RAF1)	NP_001341620.1:p.Pro519Arg
NM_001354692.2:c.1556C>G (RAF1)	NP_001341621.1:p.Pro519Arg
NM_001354693.2:c.1700C>G (RAF1)	NP_001341622.1:p.Pro567Arg
NM_001354694.2:c.1616C>G (RAF1)	NP_001341623.1:p.Pro539Arg
NM_001354695.2:c.1457C>G (RAF1)	NP_001341624.1:p.Pro486Arg
NR_148940.2:n.2243C>G (RAF1)
NR_148941.2:n.2189C>G (RAF1)
NR_148942.2:n.2128C>G (RAF1)
NM_001354690.3:c.1799C>G (RAF1)	NP_001341619.1:p.Pro600Arg
NM_001354691.3:c.1556C>G (RAF1)	NP_001341620.1:p.Pro519Arg
NM_001354692.3:c.1556C>G (RAF1)	NP_001341621.1:p.Pro519Arg
NM_001354693.3:c.1700C>G (RAF1)	NP_001341622.1:p.Pro567Arg
NM_001354694.3:c.1616C>G (RAF1)	NP_001341623.1:p.Pro539Arg
NM_001354695.3:c.1457C>G (RAF1)	NP_001341624.1:p.Pro486Arg
NM_002880.4:c.1799C>G (RAF1) MANE Select	NP_002871.1:p.Pro600Arg
NR_148940.3:n.2243C>G (RAF1)
NR_148941.3:n.2189C>G (RAF1)
NR_148942.3:n.2128C>G (RAF1)