Canonical Allele Identifier: CA432273120
Gene: RAF1 HGNC NCBI

Linked Data

gnomAD v4: 3-12590869-C-G
MyVariant Identifiers: chr3:g.12632368C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12590869C>G , CM000665.2:g.12590869C>G GRCh38
NC_000003.11:g.12632368C>G , CM000665.1:g.12632368C>G GRCh37
NC_000003.10:g.12607368C>G NCBI36
NG_007467.1:g.78311G>C , LRG_413:g.78311G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*964G>C ENSP00000401088.1:n.*964G>C
ENST00000432427.3:c.616G>C
ENST00000460610.2:n.93G>C
ENST00000465826.6:n.890G>C
ENST00000475353.2:n.1221G>C
ENST00000494557.2:n.1110G>C
ENST00000684903.1:c.*976G>C ENSP00000508612.1:n.*976G>C
ENST00000685348.1:c.*976G>C ENSP00000510285.1:n.*976G>C
ENST00000685437.1:c.1200G>C ENSP00000508794.1:p.Leu400=
ENST00000685653.1:c.1299G>C ENSP00000509968.1:p.Leu433=
ENST00000685738.1:c.*263G>C ENSP00000510156.1:n.*263G>C
ENST00000686409.1:n.2350G>C
ENST00000686455.1:n.1662G>C
ENST00000686762.1:c.1299G>C ENSP00000509767.1:p.Leu433=
ENST00000687257.1:n.1535G>C
ENST00000687326.1:c.*233G>C ENSP00000509665.1:n.*233G>C
ENST00000687505.1:n.1417G>C
ENST00000687923.1:c.1188G>C ENSP00000510255.1:p.Leu396=
ENST00000687940.1:n.1676G>C
ENST00000688269.1:n.1895G>C
ENST00000688326.1:c.732G>C
ENST00000688444.1:n.1625G>C
ENST00000688543.1:c.1200G>C ENSP00000509612.1:p.Leu400=
ENST00000688625.1:c.*877G>C ENSP00000509522.1:n.*877G>C
ENST00000688803.1:n.1530G>C
ENST00000688914.1:n.285G>C
ENST00000689097.1:c.*976G>C ENSP00000509756.1:n.*976G>C
ENST00000689389.1:c.1193+839G>C ENSP00000510213.1:n.1193+839G>C
ENST00000689418.1:c.*976G>C ENSP00000509467.1:n.*976G>C
ENST00000689481.1:c.*976G>C ENSP00000510248.1:n.*976G>C
ENST00000689540.1:n.1449G>C
ENST00000689876.1:c.1299G>C ENSP00000508535.1:p.Leu433=
ENST00000689914.1:c.*233G>C ENSP00000509847.1:n.*233G>C
ENST00000690397.1:c.1188G>C ENSP00000508730.1:p.Leu396=
ENST00000690460.1:c.1287G>C ENSP00000509106.1:p.Leu429=
ENST00000690585.1:c.191G>C
ENST00000690625.1:n.2335G>C
ENST00000691396.1:c.*1151G>C ENSP00000510712.1:n.*1151G>C
ENST00000691724.1:c.*256G>C ENSP00000509255.1:n.*256G>C
ENST00000691779.1:c.*877G>C ENSP00000508592.1:n.*877G>C
ENST00000691888.1:c.191G>C
ENST00000691899.1:c.1299G>C ENSP00000508763.1:p.Leu433=
ENST00000692069.1:n.1865G>C
ENST00000692093.1:c.1200G>C ENSP00000509669.1:p.Leu400=
ENST00000692311.1:n.2123G>C
ENST00000692558.1:n.1664G>C
ENST00000692773.1:c.*1036G>C ENSP00000509055.1:n.*1036G>C
ENST00000692830.1:c.*1044G>C ENSP00000509461.1:n.*1044G>C
ENST00000693069.1:c.*233G>C ENSP00000510072.1:n.*233G>C
ENST00000693312.1:c.1074G>C ENSP00000508686.1:p.Leu358=
ENST00000693664.1:c.1299G>C ENSP00000509614.1:p.Leu433=
ENST00000693705.1:c.*976G>C ENSP00000510697.1:n.*976G>C
ENST00000251849.9:c.1299G>C MANE Select ENSP00000251849.4:p.Leu433=
ENST00000442415.7:c.1359G>C ENSP00000401888.2:p.Leu453=
ENST00000251849.8:c.1299G>C ENSP00000251849.4:p.Leu433=
ENST00000423275.5:c.*976G>C ENSP00000401088.1:n.*976G>C
ENST00000432427.2:c.936G>C ENSP00000398591.2:p.Leu312=
ENST00000442415.6:c.1359G>C ENSP00000401888.2:p.Leu453=
ENST00000460610.1:n.256G>C
ENST00000465826.5:n.656G>C
ENST00000475353.1:n.467G>C
ENST00000494557.1:n.315G>C
NM_002880.3:c.1299G>C , LRG_413t1:c.1299G>C NP_002871.1:p.Leu433=
XM_005265355.1:c.1299G>C XP_005265412.1:p.Leu433=
XM_005265357.1:c.1200G>C XP_005265414.1:p.Leu400=
XM_005265358.3:c.1056G>C XP_005265415.1:p.Leu352=
XM_005265359.3:c.957G>C XP_005265416.1:p.Leu319=
XM_005265360.1:c.1299G>C XP_005265417.1:p.Leu433=
XM_011533974.1:c.1299G>C XP_011532276.1:p.Leu433=
XM_011533975.1:c.1056G>C XP_011532277.1:p.Leu352=
NM_001354689.1:c.1359G>C NP_001341618.1:p.Leu453=
NM_001354690.1:c.1299G>C NP_001341619.1:p.Leu433=
NM_001354691.1:c.1056G>C NP_001341620.1:p.Leu352=
NM_001354692.1:c.1056G>C NP_001341621.1:p.Leu352=
NM_001354693.1:c.1200G>C NP_001341622.1:p.Leu400=
NM_001354694.1:c.1116G>C NP_001341623.1:p.Leu372=
NM_001354695.1:c.957G>C NP_001341624.1:p.Leu319=
NR_148940.1:n.1827G>C
NR_148941.1:n.1773G>C
NR_148942.1:n.1712G>C
XM_011533974.3:c.1299G>C XP_011532276.1:p.Leu433=
XM_017006966.1:c.1200G>C XP_016862455.1:p.Leu400=
NM_001354689.3:c.1359G>C NP_001341618.1:p.Leu453=
NM_001354690.2:c.1299G>C NP_001341619.1:p.Leu433=
NM_001354691.2:c.1056G>C NP_001341620.1:p.Leu352=
NM_001354692.2:c.1056G>C NP_001341621.1:p.Leu352=
NM_001354693.2:c.1200G>C NP_001341622.1:p.Leu400=
NM_001354694.2:c.1116G>C NP_001341623.1:p.Leu372=
NM_001354695.2:c.957G>C NP_001341624.1:p.Leu319=
NR_148940.2:n.1743G>C
NR_148941.2:n.1689G>C
NR_148942.2:n.1628G>C
NM_001354690.3:c.1299G>C NP_001341619.1:p.Leu433=
NM_001354691.3:c.1056G>C NP_001341620.1:p.Leu352=
NM_001354692.3:c.1056G>C NP_001341621.1:p.Leu352=
NM_001354693.3:c.1200G>C NP_001341622.1:p.Leu400=
NM_001354694.3:c.1116G>C NP_001341623.1:p.Leu372=
NM_001354695.3:c.957G>C NP_001341624.1:p.Leu319=
NM_002880.4:c.1299G>C MANE Select NP_002871.1:p.Leu433=
NR_148940.3:n.1743G>C
NR_148941.3:n.1689G>C
NR_148942.3:n.1628G>C