Canonical Allele Identifier: CA134687

Gene: RAF1

Identifiers and link-outs to other resources

• ClinVar Variation Id: 40613
• ClinVar RCV Id: RCV000037671 ; RCV000159081 ; RCV000473341 ; RCV000987116
• dbSNP Id: rs397516813
• MyVariant Identifiers: chr3:g.12641216C>G (hg19) ; chr3:g.12599717C>G (hg38)
• PubMed: PMID:27479843
• ERepo: CA134687/MONDO:0021060/004

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12599717C>G , CM000665.2:g.12599717C>G	GRCh38
NC_000003.11:g.12641216C>G , CM000665.1:g.12641216C>G	GRCh37
NC_000003.10:g.12616216C>G	NCBI36
NG_007467.1:g.69463G>C , LRG_413:g.69463G>C

Transcript Alleles

HGVS	Amino-acid change
NM_002880.3:c.1082G>C , LRG_413t1:c.1082G>C	NP_002871.1:p.Gly361Ala
XM_005265355.1:c.1082G>C	XP_005265412.1:p.Gly361Ala
XM_005265357.1:c.983G>C	XP_005265414.1:p.Gly328Ala
XM_005265358.3:c.839G>C	XP_005265415.1:p.Gly280Ala
XM_005265359.3:c.740G>C	XP_005265416.1:p.Gly247Ala
XM_005265360.1:c.1082G>C	XP_005265417.1:p.Gly361Ala
XM_011533974.1:c.1082G>C	XP_011532276.1:p.Gly361Ala
XM_011533975.1:c.839G>C	XP_011532277.1:p.Gly280Ala
NM_001354689.1:c.1142G>C VV	NP_001341618.1:p.Gly381Ala
NM_001354690.1:c.1082G>C VV	NP_001341619.1:p.Gly361Ala
NM_001354691.1:c.839G>C VV	NP_001341620.1:p.Gly280Ala
NM_001354692.1:c.839G>C VV	NP_001341621.1:p.Gly280Ala
NM_001354693.1:c.983G>C VV	NP_001341622.1:p.Gly328Ala
NM_001354694.1:c.899G>C VV	NP_001341623.1:p.Gly300Ala
NM_001354695.1:c.740G>C VV	NP_001341624.1:p.Gly247Ala
NR_148940.1:n.1497G>C
NR_148941.1:n.1497G>C
NR_148942.1:n.1495G>C
XM_011533974.3:c.1082G>C	XP_011532276.1:p.Gly361Ala
XM_017006966.1:c.983G>C	XP_016862455.1:p.Gly328Ala
XR_001740227.1:n.1314G>C
NM_001354689.3:c.1142G>C VV MANE Preferred	NP_001341618.1:p.Gly381Ala
NM_001354690.2:c.1082G>C VV	NP_001341619.1:p.Gly361Ala
NM_001354691.2:c.839G>C VV	NP_001341620.1:p.Gly280Ala
NM_001354692.2:c.839G>C VV	NP_001341621.1:p.Gly280Ala
NM_001354693.2:c.983G>C VV	NP_001341622.1:p.Gly328Ala
NM_001354694.2:c.899G>C VV	NP_001341623.1:p.Gly300Ala
NM_001354695.2:c.740G>C VV	NP_001341624.1:p.Gly247Ala
NR_148940.2:n.1413G>C
NR_148941.2:n.1413G>C
NR_148942.2:n.1411G>C
NM_001354690.3:c.1082G>C VV	NP_001341619.1:p.Gly361Ala
NM_001354691.3:c.839G>C VV	NP_001341620.1:p.Gly280Ala
NM_001354692.3:c.839G>C VV	NP_001341621.1:p.Gly280Ala
NM_001354693.3:c.983G>C VV	NP_001341622.1:p.Gly328Ala
NM_001354694.3:c.899G>C VV	NP_001341623.1:p.Gly300Ala
NM_001354695.3:c.740G>C VV	NP_001341624.1:p.Gly247Ala
NM_002880.4:c.1082G>C VV	NP_002871.1:p.Gly361Ala
NR_148940.3:n.1413G>C
NR_148941.3:n.1413G>C
NR_148942.3:n.1411G>C
ENST00000251849.8:c.1082G>C	ENSP00000251849.4:p.Gly361Ala
ENST00000423275.5:c.*759G>C	ENSP00000401088.1:p.=
ENST00000432427.2:n.719G>C	ENSP00000398591.2:p.Gly240Ala
ENST00000442415.6:c.1142G>C	ENSP00000401888.2:p.Gly381Ala
ENST00000460610.1:n.39G>C
ENST00000465826.5:n.326G>C