Canonical Allele Identifier: CA2259549

Gene: RAF1

Linked Data

• ClinVar Variation Id: 654777
• ClinVar RCV Id: RCV000810802 ; RCV001593000
• dbSNP Id: rs774198365
• ExAC: 3:12632420 T / C
• gnomAD v2: 3-12632420-T-C
• gnomAD v3: 3-12590921-T-C
• gnomAD v4: 3-12590921-T-C
• MyVariant Identifiers: chr3:g.12632420T>C (hg19) ; chr3:g.12590921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590921T>C , CM000665.2:g.12590921T>C	GRCh38
NC_000003.11:g.12632420T>C , CM000665.1:g.12632420T>C	GRCh37
NC_000003.10:g.12607420T>C	NCBI36
NG_007467.1:g.78259A>G , LRG_413:g.78259A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*912A>G	ENSP00000401088.1:n.*912A>G
ENST00000432427.3:c.564A>G
ENST00000460610.2:n.41A>G
ENST00000465826.6:n.838A>G
ENST00000475353.2:n.1169A>G
ENST00000494557.2:n.1058A>G
ENST00000684903.1:c.*924A>G	ENSP00000508612.1:n.*924A>G
ENST00000685348.1:c.*924A>G	ENSP00000510285.1:n.*924A>G
ENST00000685437.1:c.1148A>G	ENSP00000508794.1:p.Asn383Ser
ENST00000685653.1:c.1247A>G	ENSP00000509968.1:p.Asn416Ser
ENST00000685738.1:c.*211A>G	ENSP00000510156.1:n.*211A>G
ENST00000686409.1:n.2298A>G
ENST00000686455.1:n.1610A>G
ENST00000686762.1:c.1247A>G	ENSP00000509767.1:p.Asn416Ser
ENST00000687257.1:n.1483A>G
ENST00000687326.1:c.*181A>G	ENSP00000509665.1:n.*181A>G
ENST00000687505.1:n.1365A>G
ENST00000687923.1:c.1136A>G	ENSP00000510255.1:p.Asn379Ser
ENST00000687940.1:n.1624A>G
ENST00000688269.1:n.1843A>G
ENST00000688326.1:c.680A>G
ENST00000688444.1:n.1573A>G
ENST00000688543.1:c.1148A>G	ENSP00000509612.1:p.Asn383Ser
ENST00000688625.1:c.*825A>G	ENSP00000509522.1:n.*825A>G
ENST00000688803.1:n.1478A>G
ENST00000688914.1:n.233A>G
ENST00000689097.1:c.*924A>G	ENSP00000509756.1:n.*924A>G
ENST00000689389.1:c.1193+787A>G	ENSP00000510213.1:n.1193+787A>G
ENST00000689418.1:c.*924A>G	ENSP00000509467.1:n.*924A>G
ENST00000689481.1:c.*924A>G	ENSP00000510248.1:n.*924A>G
ENST00000689540.1:n.1397A>G
ENST00000689876.1:c.1247A>G	ENSP00000508535.1:p.Asn416Ser
ENST00000689914.1:c.*181A>G	ENSP00000509847.1:n.*181A>G
ENST00000690397.1:c.1136A>G	ENSP00000508730.1:p.Asn379Ser
ENST00000690460.1:c.1235A>G	ENSP00000509106.1:p.Asn412Ser
ENST00000690585.1:c.139A>G
ENST00000690625.1:n.2283A>G
ENST00000691396.1:c.*1099A>G	ENSP00000510712.1:n.*1099A>G
ENST00000691724.1:c.*204A>G	ENSP00000509255.1:n.*204A>G
ENST00000691779.1:c.*825A>G	ENSP00000508592.1:n.*825A>G
ENST00000691888.1:c.139A>G
ENST00000691899.1:c.1247A>G	ENSP00000508763.1:p.Asn416Ser
ENST00000692069.1:n.1813A>G
ENST00000692093.1:c.1148A>G	ENSP00000509669.1:p.Asn383Ser
ENST00000692311.1:n.2071A>G
ENST00000692558.1:n.1612A>G
ENST00000692773.1:c.*984A>G	ENSP00000509055.1:n.*984A>G
ENST00000692830.1:c.*992A>G	ENSP00000509461.1:n.*992A>G
ENST00000693069.1:c.*181A>G	ENSP00000510072.1:n.*181A>G
ENST00000693312.1:c.1022A>G	ENSP00000508686.1:p.Asn341Ser
ENST00000693664.1:c.1247A>G	ENSP00000509614.1:p.Asn416Ser
ENST00000693705.1:c.*924A>G	ENSP00000510697.1:n.*924A>G
ENST00000251849.9:c.1247A>G MANE Select	ENSP00000251849.4:p.Asn416Ser
ENST00000442415.7:c.1307A>G	ENSP00000401888.2:p.Asn436Ser
ENST00000251849.8:c.1247A>G	ENSP00000251849.4:p.Asn416Ser
ENST00000423275.5:c.*924A>G	ENSP00000401088.1:n.*924A>G
ENST00000432427.2:c.884A>G	ENSP00000398591.2:p.Asn295Ser
ENST00000442415.6:c.1307A>G	ENSP00000401888.2:p.Asn436Ser
ENST00000460610.1:n.204A>G
ENST00000465826.5:n.604A>G
ENST00000475353.1:n.415A>G
ENST00000494557.1:n.263A>G
NM_002880.3:c.1247A>G , LRG_413t1:c.1247A>G	NP_002871.1:p.Asn416Ser
XM_005265355.1:c.1247A>G	XP_005265412.1:p.Asn416Ser
XM_005265357.1:c.1148A>G	XP_005265414.1:p.Asn383Ser
XM_005265358.3:c.1004A>G	XP_005265415.1:p.Asn335Ser
XM_005265359.3:c.905A>G	XP_005265416.1:p.Asn302Ser
XM_005265360.1:c.1247A>G	XP_005265417.1:p.Asn416Ser
XM_011533974.1:c.1247A>G	XP_011532276.1:p.Asn416Ser
XM_011533975.1:c.1004A>G	XP_011532277.1:p.Asn335Ser
NM_001354689.1:c.1307A>G	NP_001341618.1:p.Asn436Ser
NM_001354690.1:c.1247A>G	NP_001341619.1:p.Asn416Ser
NM_001354691.1:c.1004A>G	NP_001341620.1:p.Asn335Ser
NM_001354692.1:c.1004A>G	NP_001341621.1:p.Asn335Ser
NM_001354693.1:c.1148A>G	NP_001341622.1:p.Asn383Ser
NM_001354694.1:c.1064A>G	NP_001341623.1:p.Asn355Ser
NM_001354695.1:c.905A>G	NP_001341624.1:p.Asn302Ser
NR_148940.1:n.1775A>G
NR_148941.1:n.1721A>G
NR_148942.1:n.1660A>G
XM_011533974.3:c.1247A>G	XP_011532276.1:p.Asn416Ser
XM_017006966.1:c.1148A>G	XP_016862455.1:p.Asn383Ser
NM_001354689.3:c.1307A>G	NP_001341618.1:p.Asn436Ser
NM_001354690.2:c.1247A>G	NP_001341619.1:p.Asn416Ser
NM_001354691.2:c.1004A>G	NP_001341620.1:p.Asn335Ser
NM_001354692.2:c.1004A>G	NP_001341621.1:p.Asn335Ser
NM_001354693.2:c.1148A>G	NP_001341622.1:p.Asn383Ser
NM_001354694.2:c.1064A>G	NP_001341623.1:p.Asn355Ser
NM_001354695.2:c.905A>G	NP_001341624.1:p.Asn302Ser
NR_148940.2:n.1691A>G
NR_148941.2:n.1637A>G
NR_148942.2:n.1576A>G
NM_001354690.3:c.1247A>G	NP_001341619.1:p.Asn416Ser
NM_001354691.3:c.1004A>G	NP_001341620.1:p.Asn335Ser
NM_001354692.3:c.1004A>G	NP_001341621.1:p.Asn335Ser
NM_001354693.3:c.1148A>G	NP_001341622.1:p.Asn383Ser
NM_001354694.3:c.1064A>G	NP_001341623.1:p.Asn355Ser
NM_001354695.3:c.905A>G	NP_001341624.1:p.Asn302Ser
NM_002880.4:c.1247A>G MANE Select	NP_002871.1:p.Asn416Ser
NR_148940.3:n.1691A>G
NR_148941.3:n.1637A>G
NR_148942.3:n.1576A>G