Canonical Allele Identifier: CA351502212

Gene: RAF1

Linked Data

• gnomAD v4: 3-12590900-C-A
• MyVariant Identifiers: chr3:g.12632399C>A (hg19) ; chr3:g.12590900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590900C>A , CM000665.2:g.12590900C>A	GRCh38
NC_000003.11:g.12632399C>A , CM000665.1:g.12632399C>A	GRCh37
NC_000003.10:g.12607399C>A	NCBI36
NG_007467.1:g.78280G>T , LRG_413:g.78280G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*933G>T	ENSP00000401088.1:n.*933G>T
ENST00000432427.3:c.585G>T
ENST00000460610.2:n.62G>T
ENST00000465826.6:n.859G>T
ENST00000475353.2:n.1190G>T
ENST00000494557.2:n.1079G>T
ENST00000684903.1:c.*945G>T	ENSP00000508612.1:n.*945G>T
ENST00000685348.1:c.*945G>T	ENSP00000510285.1:n.*945G>T
ENST00000685437.1:c.1169G>T	ENSP00000508794.1:p.Trp390Leu
ENST00000685653.1:c.1268G>T	ENSP00000509968.1:p.Trp423Leu
ENST00000685738.1:c.*232G>T	ENSP00000510156.1:n.*232G>T
ENST00000686409.1:n.2319G>T
ENST00000686455.1:n.1631G>T
ENST00000686762.1:c.1268G>T	ENSP00000509767.1:p.Trp423Leu
ENST00000687257.1:n.1504G>T
ENST00000687326.1:c.*202G>T	ENSP00000509665.1:n.*202G>T
ENST00000687505.1:n.1386G>T
ENST00000687923.1:c.1157G>T	ENSP00000510255.1:p.Trp386Leu
ENST00000687940.1:n.1645G>T
ENST00000688269.1:n.1864G>T
ENST00000688326.1:c.701G>T
ENST00000688444.1:n.1594G>T
ENST00000688543.1:c.1169G>T	ENSP00000509612.1:p.Trp390Leu
ENST00000688625.1:c.*846G>T	ENSP00000509522.1:n.*846G>T
ENST00000688803.1:n.1499G>T
ENST00000688914.1:n.254G>T
ENST00000689097.1:c.*945G>T	ENSP00000509756.1:n.*945G>T
ENST00000689389.1:c.1193+808G>T	ENSP00000510213.1:n.1193+808G>T
ENST00000689418.1:c.*945G>T	ENSP00000509467.1:n.*945G>T
ENST00000689481.1:c.*945G>T	ENSP00000510248.1:n.*945G>T
ENST00000689540.1:n.1418G>T
ENST00000689876.1:c.1268G>T	ENSP00000508535.1:p.Trp423Leu
ENST00000689914.1:c.*202G>T	ENSP00000509847.1:n.*202G>T
ENST00000690397.1:c.1157G>T	ENSP00000508730.1:p.Trp386Leu
ENST00000690460.1:c.1256G>T	ENSP00000509106.1:p.Trp419Leu
ENST00000690585.1:c.160G>T
ENST00000690625.1:n.2304G>T
ENST00000691396.1:c.*1120G>T	ENSP00000510712.1:n.*1120G>T
ENST00000691724.1:c.*225G>T	ENSP00000509255.1:n.*225G>T
ENST00000691779.1:c.*846G>T	ENSP00000508592.1:n.*846G>T
ENST00000691888.1:c.160G>T
ENST00000691899.1:c.1268G>T	ENSP00000508763.1:p.Trp423Leu
ENST00000692069.1:n.1834G>T
ENST00000692093.1:c.1169G>T	ENSP00000509669.1:p.Trp390Leu
ENST00000692311.1:n.2092G>T
ENST00000692558.1:n.1633G>T
ENST00000692773.1:c.*1005G>T	ENSP00000509055.1:n.*1005G>T
ENST00000692830.1:c.*1013G>T	ENSP00000509461.1:n.*1013G>T
ENST00000693069.1:c.*202G>T	ENSP00000510072.1:n.*202G>T
ENST00000693312.1:c.1043G>T	ENSP00000508686.1:p.Trp348Leu
ENST00000693664.1:c.1268G>T	ENSP00000509614.1:p.Trp423Leu
ENST00000693705.1:c.*945G>T	ENSP00000510697.1:n.*945G>T
ENST00000251849.9:c.1268G>T MANE Select	ENSP00000251849.4:p.Trp423Leu
ENST00000442415.7:c.1328G>T	ENSP00000401888.2:p.Trp443Leu
ENST00000251849.8:c.1268G>T	ENSP00000251849.4:p.Trp423Leu
ENST00000423275.5:c.*945G>T	ENSP00000401088.1:n.*945G>T
ENST00000432427.2:c.905G>T	ENSP00000398591.2:p.Trp302Leu
ENST00000442415.6:c.1328G>T	ENSP00000401888.2:p.Trp443Leu
ENST00000460610.1:n.225G>T
ENST00000465826.5:n.625G>T
ENST00000475353.1:n.436G>T
ENST00000494557.1:n.284G>T
NM_002880.3:c.1268G>T , LRG_413t1:c.1268G>T	NP_002871.1:p.Trp423Leu
XM_005265355.1:c.1268G>T	XP_005265412.1:p.Trp423Leu
XM_005265357.1:c.1169G>T	XP_005265414.1:p.Trp390Leu
XM_005265358.3:c.1025G>T	XP_005265415.1:p.Trp342Leu
XM_005265359.3:c.926G>T	XP_005265416.1:p.Trp309Leu
XM_005265360.1:c.1268G>T	XP_005265417.1:p.Trp423Leu
XM_011533974.1:c.1268G>T	XP_011532276.1:p.Trp423Leu
XM_011533975.1:c.1025G>T	XP_011532277.1:p.Trp342Leu
NM_001354689.1:c.1328G>T	NP_001341618.1:p.Trp443Leu
NM_001354690.1:c.1268G>T	NP_001341619.1:p.Trp423Leu
NM_001354691.1:c.1025G>T	NP_001341620.1:p.Trp342Leu
NM_001354692.1:c.1025G>T	NP_001341621.1:p.Trp342Leu
NM_001354693.1:c.1169G>T	NP_001341622.1:p.Trp390Leu
NM_001354694.1:c.1085G>T	NP_001341623.1:p.Trp362Leu
NM_001354695.1:c.926G>T	NP_001341624.1:p.Trp309Leu
NR_148940.1:n.1796G>T
NR_148941.1:n.1742G>T
NR_148942.1:n.1681G>T
XM_011533974.3:c.1268G>T	XP_011532276.1:p.Trp423Leu
XM_017006966.1:c.1169G>T	XP_016862455.1:p.Trp390Leu
NM_001354689.3:c.1328G>T	NP_001341618.1:p.Trp443Leu
NM_001354690.2:c.1268G>T	NP_001341619.1:p.Trp423Leu
NM_001354691.2:c.1025G>T	NP_001341620.1:p.Trp342Leu
NM_001354692.2:c.1025G>T	NP_001341621.1:p.Trp342Leu
NM_001354693.2:c.1169G>T	NP_001341622.1:p.Trp390Leu
NM_001354694.2:c.1085G>T	NP_001341623.1:p.Trp362Leu
NM_001354695.2:c.926G>T	NP_001341624.1:p.Trp309Leu
NR_148940.2:n.1712G>T
NR_148941.2:n.1658G>T
NR_148942.2:n.1597G>T
NM_001354690.3:c.1268G>T	NP_001341619.1:p.Trp423Leu
NM_001354691.3:c.1025G>T	NP_001341620.1:p.Trp342Leu
NM_001354692.3:c.1025G>T	NP_001341621.1:p.Trp342Leu
NM_001354693.3:c.1169G>T	NP_001341622.1:p.Trp390Leu
NM_001354694.3:c.1085G>T	NP_001341623.1:p.Trp362Leu
NM_001354695.3:c.926G>T	NP_001341624.1:p.Trp309Leu
NM_002880.4:c.1268G>T MANE Select	NP_002871.1:p.Trp423Leu
NR_148940.3:n.1712G>T
NR_148941.3:n.1658G>T
NR_148942.3:n.1597G>T