Canonical Allele Identifier: CA69602124

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 2069846
• ClinVar RCV Id: RCV002966679
• dbSNP Id: rs903510533
• MyVariant Identifiers: chr3:g.12626034G>C (hg19) ; chr3:g.12584535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584535G>C , CM000665.2:g.12584535G>C	GRCh38
NC_000003.11:g.12626034G>C , CM000665.1:g.12626034G>C	GRCh37
NC_000003.10:g.12601034G>C	NCBI36
NG_007467.1:g.84645C>G , LRG_413:g.84645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1591C>G (RAF1)	ENSP00000401088.1:n.*1591C>G
ENST00000432427.3:c.1243C>G (RAF1)
ENST00000460610.2:n.6238C>G (RAF1)
ENST00000471449.2:n.736C>G (RAF1)
ENST00000475353.2:n.4206C>G (RAF1)
ENST00000684903.1:c.*1603C>G (RAF1)	ENSP00000508612.1:n.*1603C>G
ENST00000685348.1:c.*1637C>G (RAF1)	ENSP00000510285.1:n.*1637C>G
ENST00000685437.1:c.1827C>G (RAF1)	ENSP00000508794.1:p.Ser609=
ENST00000685653.1:c.1926C>G (RAF1)	ENSP00000509968.1:p.Ser642=
ENST00000685697.1:n.2661C>G (RAF1)
ENST00000685738.1:c.*890C>G (RAF1)	ENSP00000510156.1:n.*890C>G
ENST00000686409.1:n.5335C>G (RAF1)
ENST00000686455.1:n.4647C>G (RAF1)
ENST00000686762.1:c.*485C>G (RAF1)	ENSP00000509767.1:n.*485C>G
ENST00000687257.1:n.4380C>G (RAF1)
ENST00000687326.1:c.*3218C>G (RAF1)	ENSP00000509665.1:n.*3218C>G
ENST00000687505.1:n.2044C>G (RAF1)
ENST00000687923.1:c.1815C>G (RAF1)	ENSP00000510255.1:p.Ser605=
ENST00000688269.1:n.2522C>G (RAF1)
ENST00000688444.1:n.4043C>G (RAF1)
ENST00000688543.1:c.1827C>G (RAF1)	ENSP00000509612.1:p.Ser609=
ENST00000688625.1:c.*3295C>G (RAF1)	ENSP00000509522.1:n.*3295C>G
ENST00000688803.1:n.3354C>G (RAF1)
ENST00000689097.1:c.*1603C>G (RAF1)	ENSP00000509756.1:n.*1603C>G
ENST00000689389.1:c.1749C>G (RAF1)	ENSP00000510213.1:p.Ser583=
ENST00000689418.1:c.*3821C>G (RAF1)	ENSP00000509467.1:n.*3821C>G
ENST00000689540.1:n.4294C>G (RAF1)
ENST00000689876.1:c.*475C>G (RAF1)	ENSP00000508535.1:n.*475C>G
ENST00000689914.1:c.*860C>G (RAF1)	ENSP00000509847.1:n.*860C>G
ENST00000690397.1:c.1815C>G (RAF1)	ENSP00000508730.1:p.Ser605=
ENST00000690460.1:c.1914C>G (RAF1)	ENSP00000509106.1:p.Ser638=
ENST00000690585.1:c.652C>G (RAF1)
ENST00000690625.1:n.2962C>G (RAF1)
ENST00000691396.1:c.*1798C>G (RAF1)	ENSP00000510712.1:n.*1798C>G
ENST00000691643.1:n.2979C>G (RAF1)
ENST00000691724.1:c.*883C>G (RAF1)	ENSP00000509255.1:n.*883C>G
ENST00000691779.1:c.*1504C>G (RAF1)	ENSP00000508592.1:n.*1504C>G
ENST00000691888.1:c.800C>G (RAF1)
ENST00000691899.1:c.1926C>G (RAF1)	ENSP00000508763.1:p.Ser642=
ENST00000692069.1:n.4850C>G (RAF1)
ENST00000692093.1:c.1827C>G (RAF1)	ENSP00000509669.1:p.Ser609=
ENST00000692311.1:n.2750C>G (RAF1)
ENST00000692558.1:n.4509C>G (RAF1)
ENST00000692773.1:c.*1663C>G (RAF1)	ENSP00000509055.1:n.*1663C>G
ENST00000692830.1:c.*1671C>G (RAF1)	ENSP00000509461.1:n.*1671C>G
ENST00000693312.1:c.1701C>G (RAF1)	ENSP00000508686.1:p.Ser567=
ENST00000693664.1:c.*377C>G (RAF1)	ENSP00000509614.1:n.*377C>G
ENST00000693705.1:c.*1305C>G (RAF1)	ENSP00000510697.1:n.*1305C>G
ENST00000251849.9:c.1926C>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser642=
ENST00000442415.7:c.1986C>G (RAF1)	ENSP00000401888.2:p.Ser662=
ENST00000676541.1:c.*2282G>C (MKRN2)	ENSP00000503730.1:n.*2282G>C
ENST00000677142.1:c.*2282G>C (MKRN2)	ENSP00000504455.1:n.*2282G>C
ENST00000677816.1:c.*837G>C (MKRN2)	ENSP00000502893.1:n.*837G>C
ENST00000677941.1:n.2345G>C (MKRN2)
ENST00000251849.8:c.1926C>G (RAF1)	ENSP00000251849.4:p.Ser642=
ENST00000423275.5:c.*1603C>G (RAF1)	ENSP00000401088.1:n.*1603C>G
ENST00000432427.2:c.1563C>G (RAF1)	ENSP00000398591.2:p.Ser521=
ENST00000442415.6:c.1986C>G (RAF1)	ENSP00000401888.2:p.Ser662=
ENST00000471449.1:n.615C>G (RAF1)
NM_002880.3:c.1926C>G , LRG_413t1:c.1926C>G (RAF1)	NP_002871.1:p.Ser642=
XM_005265355.1:c.1926C>G (RAF1)	XP_005265412.1:p.Ser642=
XM_005265357.1:c.1827C>G (RAF1)	XP_005265414.1:p.Ser609=
XM_005265358.3:c.1683C>G (RAF1)	XP_005265415.1:p.Ser561=
XM_005265359.3:c.1584C>G (RAF1)	XP_005265416.1:p.Ser528=
XM_011533974.1:c.1926C>G (RAF1)	XP_011532276.1:p.Ser642=
XM_011533975.1:c.1683C>G (RAF1)	XP_011532277.1:p.Ser561=
NM_001354689.1:c.1986C>G (RAF1)	NP_001341618.1:p.Ser662=
NM_001354690.1:c.1926C>G (RAF1)	NP_001341619.1:p.Ser642=
NM_001354691.1:c.1683C>G (RAF1)	NP_001341620.1:p.Ser561=
NM_001354692.1:c.1683C>G (RAF1)	NP_001341621.1:p.Ser561=
NM_001354693.1:c.1827C>G (RAF1)	NP_001341622.1:p.Ser609=
NM_001354694.1:c.1743C>G (RAF1)	NP_001341623.1:p.Ser581=
NM_001354695.1:c.1584C>G (RAF1)	NP_001341624.1:p.Ser528=
NR_148940.1:n.2454C>G (RAF1)
NR_148941.1:n.2400C>G (RAF1)
NR_148942.1:n.2339C>G (RAF1)
XM_011533974.3:c.1926C>G (RAF1)	XP_011532276.1:p.Ser642=
XM_017006966.1:c.1827C>G (RAF1)	XP_016862455.1:p.Ser609=
NM_001354689.3:c.1986C>G (RAF1)	NP_001341618.1:p.Ser662=
NM_001354690.2:c.1926C>G (RAF1)	NP_001341619.1:p.Ser642=
NM_001354691.2:c.1683C>G (RAF1)	NP_001341620.1:p.Ser561=
NM_001354692.2:c.1683C>G (RAF1)	NP_001341621.1:p.Ser561=
NM_001354693.2:c.1827C>G (RAF1)	NP_001341622.1:p.Ser609=
NM_001354694.2:c.1743C>G (RAF1)	NP_001341623.1:p.Ser581=
NM_001354695.2:c.1584C>G (RAF1)	NP_001341624.1:p.Ser528=
NR_148940.2:n.2370C>G (RAF1)
NR_148941.2:n.2316C>G (RAF1)
NR_148942.2:n.2255C>G (RAF1)
NM_001354690.3:c.1926C>G (RAF1)	NP_001341619.1:p.Ser642=
NM_001354691.3:c.1683C>G (RAF1)	NP_001341620.1:p.Ser561=
NM_001354692.3:c.1683C>G (RAF1)	NP_001341621.1:p.Ser561=
NM_001354693.3:c.1827C>G (RAF1)	NP_001341622.1:p.Ser609=
NM_001354694.3:c.1743C>G (RAF1)	NP_001341623.1:p.Ser581=
NM_001354695.3:c.1584C>G (RAF1)	NP_001341624.1:p.Ser528=
NM_002880.4:c.1926C>G (RAF1) MANE Select	NP_002871.1:p.Ser642=
NR_148940.3:n.2370C>G (RAF1)
NR_148941.3:n.2316C>G (RAF1)
NR_148942.3:n.2255C>G (RAF1)