Canonical Allele Identifier: CA351498832

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627194A>C (hg19) ; chr3:g.12585695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585695A>C , CM000665.2:g.12585695A>C	GRCh38
NC_000003.11:g.12627194A>C , CM000665.1:g.12627194A>C	GRCh37
NC_000003.10:g.12602194A>C	NCBI36
NG_007467.1:g.83485T>G , LRG_413:g.83485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1187T>G (RAF1)	ENSP00000401088.1:n.*1187T>G
ENST00000432427.3:c.839T>G (RAF1)
ENST00000460610.2:n.5267T>G (RAF1)
ENST00000471449.2:n.332T>G (RAF1)
ENST00000475353.2:n.3235T>G (RAF1)
ENST00000684903.1:c.*1199T>G (RAF1)	ENSP00000508612.1:n.*1199T>G
ENST00000685348.1:c.*1095-289T>G (RAF1)	ENSP00000510285.1:n.*1095-289T>G
ENST00000685437.1:c.1423T>G (RAF1)	ENSP00000508794.1:p.Ser475Ala
ENST00000685653.1:c.1522T>G (RAF1)	ENSP00000509968.1:p.Ser508Ala
ENST00000685697.1:n.2257T>G (RAF1)
ENST00000685738.1:c.*486T>G (RAF1)	ENSP00000510156.1:n.*486T>G
ENST00000686409.1:n.4364T>G (RAF1)
ENST00000686455.1:n.3676T>G (RAF1)
ENST00000686762.1:c.*81T>G (RAF1)	ENSP00000509767.1:n.*81T>G
ENST00000687257.1:n.3549T>G (RAF1)
ENST00000687326.1:c.*2247T>G (RAF1)	ENSP00000509665.1:n.*2247T>G
ENST00000687505.1:n.1640T>G (RAF1)
ENST00000687923.1:c.1411T>G (RAF1)	ENSP00000510255.1:p.Ser471Ala
ENST00000688269.1:n.2118T>G (RAF1)
ENST00000688444.1:n.3639T>G (RAF1)
ENST00000688543.1:c.1423T>G (RAF1)	ENSP00000509612.1:p.Ser475Ala
ENST00000688625.1:c.*2891T>G (RAF1)	ENSP00000509522.1:n.*2891T>G
ENST00000688803.1:n.2965-442T>G (RAF1)
ENST00000688914.1:n.508T>G (RAF1)
ENST00000689097.1:c.*1199T>G (RAF1)	ENSP00000509756.1:n.*1199T>G
ENST00000689389.1:c.1345T>G (RAF1)	ENSP00000510213.1:p.Ser449Ala
ENST00000689418.1:c.*2990T>G (RAF1)	ENSP00000509467.1:n.*2990T>G
ENST00000689540.1:n.3463T>G (RAF1)
ENST00000689876.1:c.1418-289T>G (RAF1)	ENSP00000508535.1:n.1418-289T>G
ENST00000689914.1:c.*456T>G (RAF1)	ENSP00000509847.1:n.*456T>G
ENST00000690397.1:c.1411T>G (RAF1)	ENSP00000508730.1:p.Ser471Ala
ENST00000690460.1:c.1510T>G (RAF1)	ENSP00000509106.1:p.Ser504Ala
ENST00000690585.1:c.263-442T>G (RAF1)
ENST00000690625.1:n.2558T>G (RAF1)
ENST00000691396.1:c.*1394T>G (RAF1)	ENSP00000510712.1:n.*1394T>G
ENST00000691643.1:n.2148T>G (RAF1)
ENST00000691724.1:c.*479T>G (RAF1)	ENSP00000509255.1:n.*479T>G
ENST00000691779.1:c.*1100T>G (RAF1)	ENSP00000508592.1:n.*1100T>G
ENST00000691888.1:c.396T>G (RAF1)
ENST00000691899.1:c.1522T>G (RAF1)	ENSP00000508763.1:p.Ser508Ala
ENST00000692069.1:n.3879T>G (RAF1)
ENST00000692093.1:c.1423T>G (RAF1)	ENSP00000509669.1:p.Ser475Ala
ENST00000692311.1:n.2346T>G (RAF1)
ENST00000692558.1:n.3678T>G (RAF1)
ENST00000692773.1:c.*1259T>G (RAF1)	ENSP00000509055.1:n.*1259T>G
ENST00000692830.1:c.*1267T>G (RAF1)	ENSP00000509461.1:n.*1267T>G
ENST00000693312.1:c.1297T>G (RAF1)	ENSP00000508686.1:p.Ser433Ala
ENST00000693664.1:c.1488-442T>G (RAF1)	ENSP00000509614.1:n.1488-442T>G
ENST00000693705.1:c.*1048-714T>G (RAF1)	ENSP00000510697.1:n.*1048-714T>G
ENST00000251849.9:c.1522T>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser508Ala
ENST00000442415.7:c.1582T>G (RAF1)	ENSP00000401888.2:p.Ser528Ala
ENST00000676541.1:c.*3442A>C (MKRN2)	ENSP00000503730.1:n.*3442A>C
ENST00000677142.1:c.*3442A>C (MKRN2)	ENSP00000504455.1:n.*3442A>C
ENST00000677816.1:c.*1997A>C (MKRN2)	ENSP00000502893.1:n.*1997A>C
ENST00000677941.1:n.3505A>C (MKRN2)
ENST00000251849.8:c.1522T>G (RAF1)	ENSP00000251849.4:p.Ser508Ala
ENST00000423275.5:c.*1199T>G (RAF1)	ENSP00000401088.1:n.*1199T>G
ENST00000432427.2:c.1159T>G (RAF1)	ENSP00000398591.2:p.Ser387Ala
ENST00000442415.6:c.1582T>G (RAF1)	ENSP00000401888.2:p.Ser528Ala
ENST00000471449.1:n.211T>G (RAF1)
NM_002880.3:c.1522T>G , LRG_413t1:c.1522T>G (RAF1)	NP_002871.1:p.Ser508Ala
XM_005265355.1:c.1522T>G (RAF1)	XP_005265412.1:p.Ser508Ala
XM_005265357.1:c.1423T>G (RAF1)	XP_005265414.1:p.Ser475Ala
XM_005265358.3:c.1279T>G (RAF1)	XP_005265415.1:p.Ser427Ala
XM_005265359.3:c.1180T>G (RAF1)	XP_005265416.1:p.Ser394Ala
XM_005265360.1:c.1418-289T>G (RAF1)	XP_005265417.1:n.1418-289T>G
XM_011533974.1:c.1522T>G (RAF1)	XP_011532276.1:p.Ser508Ala
XM_011533975.1:c.1279T>G (RAF1)	XP_011532277.1:p.Ser427Ala
NM_001354689.1:c.1582T>G (RAF1)	NP_001341618.1:p.Ser528Ala
NM_001354690.1:c.1522T>G (RAF1)	NP_001341619.1:p.Ser508Ala
NM_001354691.1:c.1279T>G (RAF1)	NP_001341620.1:p.Ser427Ala
NM_001354692.1:c.1279T>G (RAF1)	NP_001341621.1:p.Ser427Ala
NM_001354693.1:c.1423T>G (RAF1)	NP_001341622.1:p.Ser475Ala
NM_001354694.1:c.1339T>G (RAF1)	NP_001341623.1:p.Ser447Ala
NM_001354695.1:c.1180T>G (RAF1)	NP_001341624.1:p.Ser394Ala
NR_148940.1:n.2050T>G (RAF1)
NR_148941.1:n.1996T>G (RAF1)
NR_148942.1:n.1935T>G (RAF1)
XM_011533974.3:c.1522T>G (RAF1)	XP_011532276.1:p.Ser508Ala
XM_017006966.1:c.1423T>G (RAF1)	XP_016862455.1:p.Ser475Ala
NM_001354689.3:c.1582T>G (RAF1)	NP_001341618.1:p.Ser528Ala
NM_001354690.2:c.1522T>G (RAF1)	NP_001341619.1:p.Ser508Ala
NM_001354691.2:c.1279T>G (RAF1)	NP_001341620.1:p.Ser427Ala
NM_001354692.2:c.1279T>G (RAF1)	NP_001341621.1:p.Ser427Ala
NM_001354693.2:c.1423T>G (RAF1)	NP_001341622.1:p.Ser475Ala
NM_001354694.2:c.1339T>G (RAF1)	NP_001341623.1:p.Ser447Ala
NM_001354695.2:c.1180T>G (RAF1)	NP_001341624.1:p.Ser394Ala
NR_148940.2:n.1966T>G (RAF1)
NR_148941.2:n.1912T>G (RAF1)
NR_148942.2:n.1851T>G (RAF1)
NM_001354690.3:c.1522T>G (RAF1)	NP_001341619.1:p.Ser508Ala
NM_001354691.3:c.1279T>G (RAF1)	NP_001341620.1:p.Ser427Ala
NM_001354692.3:c.1279T>G (RAF1)	NP_001341621.1:p.Ser427Ala
NM_001354693.3:c.1423T>G (RAF1)	NP_001341622.1:p.Ser475Ala
NM_001354694.3:c.1339T>G (RAF1)	NP_001341623.1:p.Ser447Ala
NM_001354695.3:c.1180T>G (RAF1)	NP_001341624.1:p.Ser394Ala
NM_002880.4:c.1522T>G (RAF1) MANE Select	NP_002871.1:p.Ser508Ala
NR_148940.3:n.1966T>G (RAF1)
NR_148941.3:n.1912T>G (RAF1)
NR_148942.3:n.1851T>G (RAF1)