Canonical Allele Identifier: CA351502704

Gene: RAF1

Linked Data

• ClinVar Variation Id: 1805073
• ClinVar RCV Id: RCV002471491 ; RCV003775511 ; RCV004067590
• dbSNP Id: rs2125343630
• gnomAD v4: 3-12590967-G-A
• MyVariant Identifiers: chr3:g.12632466G>A (hg19) ; chr3:g.12590967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590967G>A , CM000665.2:g.12590967G>A	GRCh38
NC_000003.11:g.12632466G>A , CM000665.1:g.12632466G>A	GRCh37
NC_000003.10:g.12607466G>A	NCBI36
NG_007467.1:g.78213C>T , LRG_413:g.78213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*866C>T	ENSP00000401088.1:n.*866C>T
ENST00000432427.3:c.518C>T
ENST00000465826.6:n.792C>T
ENST00000475353.2:n.1123C>T
ENST00000494557.2:n.1012C>T
ENST00000684903.1:c.*878C>T	ENSP00000508612.1:n.*878C>T
ENST00000685348.1:c.*878C>T	ENSP00000510285.1:n.*878C>T
ENST00000685437.1:c.1102C>T	ENSP00000508794.1:p.Arg368Trp
ENST00000685653.1:c.1201C>T	ENSP00000509968.1:p.Arg401Trp
ENST00000685738.1:c.*165C>T	ENSP00000510156.1:n.*165C>T
ENST00000686409.1:n.2252C>T
ENST00000686455.1:n.1564C>T
ENST00000686762.1:c.1201C>T	ENSP00000509767.1:p.Arg401Trp
ENST00000687257.1:n.1437C>T
ENST00000687326.1:c.*135C>T	ENSP00000509665.1:n.*135C>T
ENST00000687505.1:n.1319C>T
ENST00000687923.1:c.1090C>T	ENSP00000510255.1:p.Arg364Trp
ENST00000687940.1:n.1578C>T
ENST00000688269.1:n.1797C>T
ENST00000688326.1:c.634C>T
ENST00000688444.1:n.1527C>T
ENST00000688543.1:c.1102C>T	ENSP00000509612.1:p.Arg368Trp
ENST00000688625.1:c.*779C>T	ENSP00000509522.1:n.*779C>T
ENST00000688803.1:n.1432C>T
ENST00000688914.1:n.187C>T
ENST00000689097.1:c.*878C>T	ENSP00000509756.1:n.*878C>T
ENST00000689389.1:c.1193+741C>T	ENSP00000510213.1:n.1193+741C>T
ENST00000689418.1:c.*878C>T	ENSP00000509467.1:n.*878C>T
ENST00000689481.1:c.*878C>T	ENSP00000510248.1:n.*878C>T
ENST00000689540.1:n.1351C>T
ENST00000689876.1:c.1201C>T	ENSP00000508535.1:p.Arg401Trp
ENST00000689914.1:c.*135C>T	ENSP00000509847.1:n.*135C>T
ENST00000690397.1:c.1090C>T	ENSP00000508730.1:p.Arg364Trp
ENST00000690460.1:c.1189C>T	ENSP00000509106.1:p.Arg397Trp
ENST00000690585.1:c.93C>T
ENST00000690625.1:n.2237C>T
ENST00000691396.1:c.*1053C>T	ENSP00000510712.1:n.*1053C>T
ENST00000691724.1:c.*158C>T	ENSP00000509255.1:n.*158C>T
ENST00000691779.1:c.*779C>T	ENSP00000508592.1:n.*779C>T
ENST00000691888.1:c.93C>T
ENST00000691899.1:c.1201C>T	ENSP00000508763.1:p.Arg401Trp
ENST00000692069.1:n.1767C>T
ENST00000692093.1:c.1102C>T	ENSP00000509669.1:p.Arg368Trp
ENST00000692311.1:n.2025C>T
ENST00000692558.1:n.1566C>T
ENST00000692773.1:c.*938C>T	ENSP00000509055.1:n.*938C>T
ENST00000692830.1:c.*946C>T	ENSP00000509461.1:n.*946C>T
ENST00000693069.1:c.*135C>T	ENSP00000510072.1:n.*135C>T
ENST00000693312.1:c.976C>T	ENSP00000508686.1:p.Arg326Trp
ENST00000693664.1:c.1201C>T	ENSP00000509614.1:p.Arg401Trp
ENST00000693705.1:c.*878C>T	ENSP00000510697.1:n.*878C>T
ENST00000251849.9:c.1201C>T MANE Select	ENSP00000251849.4:p.Arg401Trp
ENST00000442415.7:c.1261C>T	ENSP00000401888.2:p.Arg421Trp
ENST00000251849.8:c.1201C>T	ENSP00000251849.4:p.Arg401Trp
ENST00000423275.5:c.*878C>T	ENSP00000401088.1:n.*878C>T
ENST00000432427.2:c.838C>T	ENSP00000398591.2:p.Arg280Trp
ENST00000442415.6:c.1261C>T	ENSP00000401888.2:p.Arg421Trp
ENST00000460610.1:n.158C>T
ENST00000465826.5:n.558C>T
ENST00000475353.1:n.369C>T
ENST00000494557.1:n.217C>T
NM_002880.3:c.1201C>T , LRG_413t1:c.1201C>T	NP_002871.1:p.Arg401Trp
XM_005265355.1:c.1201C>T	XP_005265412.1:p.Arg401Trp
XM_005265357.1:c.1102C>T	XP_005265414.1:p.Arg368Trp
XM_005265358.3:c.958C>T	XP_005265415.1:p.Arg320Trp
XM_005265359.3:c.859C>T	XP_005265416.1:p.Arg287Trp
XM_005265360.1:c.1201C>T	XP_005265417.1:p.Arg401Trp
XM_011533974.1:c.1201C>T	XP_011532276.1:p.Arg401Trp
XM_011533975.1:c.958C>T	XP_011532277.1:p.Arg320Trp
NM_001354689.1:c.1261C>T	NP_001341618.1:p.Arg421Trp
NM_001354690.1:c.1201C>T	NP_001341619.1:p.Arg401Trp
NM_001354691.1:c.958C>T	NP_001341620.1:p.Arg320Trp
NM_001354692.1:c.958C>T	NP_001341621.1:p.Arg320Trp
NM_001354693.1:c.1102C>T	NP_001341622.1:p.Arg368Trp
NM_001354694.1:c.1018C>T	NP_001341623.1:p.Arg340Trp
NM_001354695.1:c.859C>T	NP_001341624.1:p.Arg287Trp
NR_148940.1:n.1729C>T
NR_148941.1:n.1675C>T
NR_148942.1:n.1614C>T
XM_011533974.3:c.1201C>T	XP_011532276.1:p.Arg401Trp
XM_017006966.1:c.1102C>T	XP_016862455.1:p.Arg368Trp
XR_001740227.1:n.1492C>T
NM_001354689.3:c.1261C>T	NP_001341618.1:p.Arg421Trp
NM_001354690.2:c.1201C>T	NP_001341619.1:p.Arg401Trp
NM_001354691.2:c.958C>T	NP_001341620.1:p.Arg320Trp
NM_001354692.2:c.958C>T	NP_001341621.1:p.Arg320Trp
NM_001354693.2:c.1102C>T	NP_001341622.1:p.Arg368Trp
NM_001354694.2:c.1018C>T	NP_001341623.1:p.Arg340Trp
NM_001354695.2:c.859C>T	NP_001341624.1:p.Arg287Trp
NR_148940.2:n.1645C>T
NR_148941.2:n.1591C>T
NR_148942.2:n.1530C>T
NM_001354690.3:c.1201C>T	NP_001341619.1:p.Arg401Trp
NM_001354691.3:c.958C>T	NP_001341620.1:p.Arg320Trp
NM_001354692.3:c.958C>T	NP_001341621.1:p.Arg320Trp
NM_001354693.3:c.1102C>T	NP_001341622.1:p.Arg368Trp
NM_001354694.3:c.1018C>T	NP_001341623.1:p.Arg340Trp
NM_001354695.3:c.859C>T	NP_001341624.1:p.Arg287Trp
NM_002880.4:c.1201C>T MANE Select	NP_002871.1:p.Arg401Trp
NR_148940.3:n.1645C>T
NR_148941.3:n.1591C>T
NR_148942.3:n.1530C>T