Canonical Allele Identifier: CA351495809

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125316506
• MyVariant Identifiers: chr3:g.12626087A>C (hg19) ; chr3:g.12584588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584588A>C , CM000665.2:g.12584588A>C	GRCh38
NC_000003.11:g.12626087A>C , CM000665.1:g.12626087A>C	GRCh37
NC_000003.10:g.12601087A>C	NCBI36
NG_007467.1:g.84592T>G , LRG_413:g.84592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1538T>G (RAF1)	ENSP00000401088.1:n.*1538T>G
ENST00000432427.3:c.1190T>G (RAF1)
ENST00000460610.2:n.6185T>G (RAF1)
ENST00000471449.2:n.683T>G (RAF1)
ENST00000475353.2:n.4153T>G (RAF1)
ENST00000684903.1:c.*1550T>G (RAF1)	ENSP00000508612.1:n.*1550T>G
ENST00000685348.1:c.*1584T>G (RAF1)	ENSP00000510285.1:n.*1584T>G
ENST00000685437.1:c.1774T>G (RAF1)	ENSP00000508794.1:p.Leu592Val
ENST00000685653.1:c.1873T>G (RAF1)	ENSP00000509968.1:p.Leu625Val
ENST00000685697.1:n.2608T>G (RAF1)
ENST00000685738.1:c.*837T>G (RAF1)	ENSP00000510156.1:n.*837T>G
ENST00000686409.1:n.5282T>G (RAF1)
ENST00000686455.1:n.4594T>G (RAF1)
ENST00000686762.1:c.*432T>G (RAF1)	ENSP00000509767.1:n.*432T>G
ENST00000687257.1:n.4327T>G (RAF1)
ENST00000687326.1:c.*3165T>G (RAF1)	ENSP00000509665.1:n.*3165T>G
ENST00000687505.1:n.1991T>G (RAF1)
ENST00000687923.1:c.1762T>G (RAF1)	ENSP00000510255.1:p.Leu588Val
ENST00000688269.1:n.2469T>G (RAF1)
ENST00000688444.1:n.3990T>G (RAF1)
ENST00000688543.1:c.1774T>G (RAF1)	ENSP00000509612.1:p.Leu592Val
ENST00000688625.1:c.*3242T>G (RAF1)	ENSP00000509522.1:n.*3242T>G
ENST00000688803.1:n.3301T>G (RAF1)
ENST00000689097.1:c.*1550T>G (RAF1)	ENSP00000509756.1:n.*1550T>G
ENST00000689389.1:c.1696T>G (RAF1)	ENSP00000510213.1:p.Leu566Val
ENST00000689418.1:c.*3768T>G (RAF1)	ENSP00000509467.1:n.*3768T>G
ENST00000689540.1:n.4241T>G (RAF1)
ENST00000689876.1:c.*422T>G (RAF1)	ENSP00000508535.1:n.*422T>G
ENST00000689914.1:c.*807T>G (RAF1)	ENSP00000509847.1:n.*807T>G
ENST00000690397.1:c.1762T>G (RAF1)	ENSP00000508730.1:p.Leu588Val
ENST00000690460.1:c.1861T>G (RAF1)	ENSP00000509106.1:p.Leu621Val
ENST00000690585.1:c.599T>G (RAF1)
ENST00000690625.1:n.2909T>G (RAF1)
ENST00000691396.1:c.*1745T>G (RAF1)	ENSP00000510712.1:n.*1745T>G
ENST00000691643.1:n.2926T>G (RAF1)
ENST00000691724.1:c.*830T>G (RAF1)	ENSP00000509255.1:n.*830T>G
ENST00000691779.1:c.*1451T>G (RAF1)	ENSP00000508592.1:n.*1451T>G
ENST00000691888.1:c.747T>G (RAF1)
ENST00000691899.1:c.1873T>G (RAF1)	ENSP00000508763.1:p.Leu625Val
ENST00000692069.1:n.4797T>G (RAF1)
ENST00000692093.1:c.1774T>G (RAF1)	ENSP00000509669.1:p.Leu592Val
ENST00000692311.1:n.2697T>G (RAF1)
ENST00000692558.1:n.4456T>G (RAF1)
ENST00000692773.1:c.*1610T>G (RAF1)	ENSP00000509055.1:n.*1610T>G
ENST00000692830.1:c.*1618T>G (RAF1)	ENSP00000509461.1:n.*1618T>G
ENST00000693312.1:c.1648T>G (RAF1)	ENSP00000508686.1:p.Leu550Val
ENST00000693664.1:c.*324T>G (RAF1)	ENSP00000509614.1:n.*324T>G
ENST00000693705.1:c.*1252T>G (RAF1)	ENSP00000510697.1:n.*1252T>G
ENST00000251849.9:c.1873T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu625Val
ENST00000442415.7:c.1933T>G (RAF1)	ENSP00000401888.2:p.Leu645Val
ENST00000676541.1:c.*2335A>C (MKRN2)	ENSP00000503730.1:n.*2335A>C
ENST00000677142.1:c.*2335A>C (MKRN2)	ENSP00000504455.1:n.*2335A>C
ENST00000677816.1:c.*890A>C (MKRN2)	ENSP00000502893.1:n.*890A>C
ENST00000677941.1:n.2398A>C (MKRN2)
ENST00000251849.8:c.1873T>G (RAF1)	ENSP00000251849.4:p.Leu625Val
ENST00000423275.5:c.*1550T>G (RAF1)	ENSP00000401088.1:n.*1550T>G
ENST00000432427.2:c.1510T>G (RAF1)	ENSP00000398591.2:p.Leu504Val
ENST00000442415.6:c.1933T>G (RAF1)	ENSP00000401888.2:p.Leu645Val
ENST00000471449.1:n.562T>G (RAF1)
NM_002880.3:c.1873T>G , LRG_413t1:c.1873T>G (RAF1)	NP_002871.1:p.Leu625Val
XM_005265355.1:c.1873T>G (RAF1)	XP_005265412.1:p.Leu625Val
XM_005265357.1:c.1774T>G (RAF1)	XP_005265414.1:p.Leu592Val
XM_005265358.3:c.1630T>G (RAF1)	XP_005265415.1:p.Leu544Val
XM_005265359.3:c.1531T>G (RAF1)	XP_005265416.1:p.Leu511Val
XM_011533974.1:c.1873T>G (RAF1)	XP_011532276.1:p.Leu625Val
XM_011533975.1:c.1630T>G (RAF1)	XP_011532277.1:p.Leu544Val
NM_001354689.1:c.1933T>G (RAF1)	NP_001341618.1:p.Leu645Val
NM_001354690.1:c.1873T>G (RAF1)	NP_001341619.1:p.Leu625Val
NM_001354691.1:c.1630T>G (RAF1)	NP_001341620.1:p.Leu544Val
NM_001354692.1:c.1630T>G (RAF1)	NP_001341621.1:p.Leu544Val
NM_001354693.1:c.1774T>G (RAF1)	NP_001341622.1:p.Leu592Val
NM_001354694.1:c.1690T>G (RAF1)	NP_001341623.1:p.Leu564Val
NM_001354695.1:c.1531T>G (RAF1)	NP_001341624.1:p.Leu511Val
NR_148940.1:n.2401T>G (RAF1)
NR_148941.1:n.2347T>G (RAF1)
NR_148942.1:n.2286T>G (RAF1)
XM_011533974.3:c.1873T>G (RAF1)	XP_011532276.1:p.Leu625Val
XM_017006966.1:c.1774T>G (RAF1)	XP_016862455.1:p.Leu592Val
NM_001354689.3:c.1933T>G (RAF1)	NP_001341618.1:p.Leu645Val
NM_001354690.2:c.1873T>G (RAF1)	NP_001341619.1:p.Leu625Val
NM_001354691.2:c.1630T>G (RAF1)	NP_001341620.1:p.Leu544Val
NM_001354692.2:c.1630T>G (RAF1)	NP_001341621.1:p.Leu544Val
NM_001354693.2:c.1774T>G (RAF1)	NP_001341622.1:p.Leu592Val
NM_001354694.2:c.1690T>G (RAF1)	NP_001341623.1:p.Leu564Val
NM_001354695.2:c.1531T>G (RAF1)	NP_001341624.1:p.Leu511Val
NR_148940.2:n.2317T>G (RAF1)
NR_148941.2:n.2263T>G (RAF1)
NR_148942.2:n.2202T>G (RAF1)
NM_001354690.3:c.1873T>G (RAF1)	NP_001341619.1:p.Leu625Val
NM_001354691.3:c.1630T>G (RAF1)	NP_001341620.1:p.Leu544Val
NM_001354692.3:c.1630T>G (RAF1)	NP_001341621.1:p.Leu544Val
NM_001354693.3:c.1774T>G (RAF1)	NP_001341622.1:p.Leu592Val
NM_001354694.3:c.1690T>G (RAF1)	NP_001341623.1:p.Leu564Val
NM_001354695.3:c.1531T>G (RAF1)	NP_001341624.1:p.Leu511Val
NM_002880.4:c.1873T>G (RAF1) MANE Select	NP_002871.1:p.Leu625Val
NR_148940.3:n.2317T>G (RAF1)
NR_148941.3:n.2263T>G (RAF1)
NR_148942.3:n.2202T>G (RAF1)