Canonical Allele Identifier: CA351507604

Gene: RAF1

Linked Data

• ClinVar Variation Id: 1474876
• ClinVar RCV Id: RCV001973706
• dbSNP Id: rs2125377884
• gnomAD v4: 3-12599744-G-A
• MyVariant Identifiers: chr3:g.12641243G>A (hg19) ; chr3:g.12599744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12599744G>A , CM000665.2:g.12599744G>A	GRCh38
NC_000003.11:g.12641243G>A , CM000665.1:g.12641243G>A	GRCh37
NC_000003.10:g.12616243G>A	NCBI36
NG_007467.1:g.69436C>T , LRG_413:g.69436C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*720C>T	ENSP00000401088.1:n.*720C>T
ENST00000432427.3:c.375C>T
ENST00000465826.6:n.646C>T
ENST00000491290.2:n.1432C>T
ENST00000684903.1:c.*732C>T	ENSP00000508612.1:n.*732C>T
ENST00000685348.1:c.*732C>T	ENSP00000510285.1:n.*732C>T
ENST00000685437.1:c.956C>T	ENSP00000508794.1:p.Ser319Phe
ENST00000685653.1:c.1055C>T	ENSP00000509968.1:p.Ser352Phe
ENST00000685738.1:c.1055C>T	ENSP00000510156.1:p.Ser352Phe
ENST00000686409.1:n.2106C>T
ENST00000686455.1:n.1418C>T
ENST00000686479.1:n.1426C>T
ENST00000686762.1:c.1055C>T	ENSP00000509767.1:p.Ser352Phe
ENST00000687257.1:n.1291C>T
ENST00000687326.1:c.1055C>T	ENSP00000509665.1:p.Ser352Phe
ENST00000687486.1:c.247C>T
ENST00000687505.1:n.1173C>T
ENST00000687923.1:c.956C>T	ENSP00000510255.1:p.Ser319Phe
ENST00000687940.1:n.1432C>T
ENST00000688269.1:n.1651C>T
ENST00000688326.1:c.375C>T
ENST00000688444.1:n.1381C>T
ENST00000688543.1:c.956C>T	ENSP00000509612.1:p.Ser319Phe
ENST00000688625.1:c.*633C>T	ENSP00000509522.1:n.*633C>T
ENST00000688803.1:n.1286C>T
ENST00000688914.1:n.41C>T
ENST00000689097.1:c.*732C>T	ENSP00000509756.1:n.*732C>T
ENST00000689389.1:c.1055C>T	ENSP00000510213.1:p.Ser352Phe
ENST00000689418.1:c.*732C>T	ENSP00000509467.1:n.*732C>T
ENST00000689481.1:c.*732C>T	ENSP00000510248.1:n.*732C>T
ENST00000689540.1:n.1205C>T
ENST00000689876.1:c.1055C>T	ENSP00000508535.1:p.Ser352Phe
ENST00000689914.1:c.1055C>T	ENSP00000509847.1:p.Ser352Phe
ENST00000690397.1:c.944C>T	ENSP00000508730.1:p.Ser315Phe
ENST00000690460.1:c.1043C>T	ENSP00000509106.1:p.Ser348Phe
ENST00000690625.1:n.1358C>T
ENST00000691268.1:c.482C>T
ENST00000691396.1:c.*848C>T	ENSP00000510712.1:n.*848C>T
ENST00000691724.1:c.*12C>T	ENSP00000509255.1:n.*12C>T
ENST00000691779.1:c.*633C>T	ENSP00000508592.1:n.*633C>T
ENST00000691899.1:c.1055C>T	ENSP00000508763.1:p.Ser352Phe
ENST00000692069.1:n.1621C>T
ENST00000692093.1:c.956C>T	ENSP00000509669.1:p.Ser319Phe
ENST00000692311.1:n.1879C>T
ENST00000692558.1:n.1420C>T
ENST00000692773.1:c.*792C>T	ENSP00000509055.1:n.*792C>T
ENST00000692830.1:c.*800C>T	ENSP00000509461.1:n.*800C>T
ENST00000693069.1:c.956C>T	ENSP00000510072.1:p.Ser319Phe
ENST00000693312.1:c.830C>T	ENSP00000508686.1:p.Ser277Phe
ENST00000693664.1:c.1055C>T	ENSP00000509614.1:p.Ser352Phe
ENST00000693705.1:c.*732C>T	ENSP00000510697.1:n.*732C>T
ENST00000251849.9:c.1055C>T MANE Select	ENSP00000251849.4:p.Ser352Phe
ENST00000442415.7:c.1115C>T	ENSP00000401888.2:p.Ser372Phe
ENST00000251849.8:c.1055C>T	ENSP00000251849.4:p.Ser352Phe
ENST00000423275.5:c.*732C>T	ENSP00000401088.1:n.*732C>T
ENST00000432427.2:c.692C>T	ENSP00000398591.2:p.Ser231Phe
ENST00000442415.6:c.1115C>T	ENSP00000401888.2:p.Ser372Phe
ENST00000460610.1:n.12C>T
ENST00000465826.5:n.299C>T
NM_002880.3:c.1055C>T , LRG_413t1:c.1055C>T	NP_002871.1:p.Ser352Phe
XM_005265355.1:c.1055C>T	XP_005265412.1:p.Ser352Phe
XM_005265357.1:c.956C>T	XP_005265414.1:p.Ser319Phe
XM_005265358.3:c.812C>T	XP_005265415.1:p.Ser271Phe
XM_005265359.3:c.713C>T	XP_005265416.1:p.Ser238Phe
XM_005265360.1:c.1055C>T	XP_005265417.1:p.Ser352Phe
XM_011533974.1:c.1055C>T	XP_011532276.1:p.Ser352Phe
XM_011533975.1:c.812C>T	XP_011532277.1:p.Ser271Phe
NM_001354689.1:c.1115C>T	NP_001341618.1:p.Ser372Phe
NM_001354690.1:c.1055C>T	NP_001341619.1:p.Ser352Phe
NM_001354691.1:c.812C>T	NP_001341620.1:p.Ser271Phe
NM_001354692.1:c.812C>T	NP_001341621.1:p.Ser271Phe
NM_001354693.1:c.956C>T	NP_001341622.1:p.Ser319Phe
NM_001354694.1:c.872C>T	NP_001341623.1:p.Ser291Phe
NM_001354695.1:c.713C>T	NP_001341624.1:p.Ser238Phe
NR_148940.1:n.1470C>T
NR_148941.1:n.1470C>T
NR_148942.1:n.1468C>T
XM_011533974.3:c.1055C>T	XP_011532276.1:p.Ser352Phe
XM_017006966.1:c.956C>T	XP_016862455.1:p.Ser319Phe
XR_001740227.1:n.1287C>T
NM_001354689.3:c.1115C>T	NP_001341618.1:p.Ser372Phe
NM_001354690.2:c.1055C>T	NP_001341619.1:p.Ser352Phe
NM_001354691.2:c.812C>T	NP_001341620.1:p.Ser271Phe
NM_001354692.2:c.812C>T	NP_001341621.1:p.Ser271Phe
NM_001354693.2:c.956C>T	NP_001341622.1:p.Ser319Phe
NM_001354694.2:c.872C>T	NP_001341623.1:p.Ser291Phe
NM_001354695.2:c.713C>T	NP_001341624.1:p.Ser238Phe
NR_148940.2:n.1386C>T
NR_148941.2:n.1386C>T
NR_148942.2:n.1384C>T
NM_001354690.3:c.1055C>T	NP_001341619.1:p.Ser352Phe
NM_001354691.3:c.812C>T	NP_001341620.1:p.Ser271Phe
NM_001354692.3:c.812C>T	NP_001341621.1:p.Ser271Phe
NM_001354693.3:c.956C>T	NP_001341622.1:p.Ser319Phe
NM_001354694.3:c.872C>T	NP_001341623.1:p.Ser291Phe
NM_001354695.3:c.713C>T	NP_001341624.1:p.Ser238Phe
NM_002880.4:c.1055C>T MANE Select	NP_002871.1:p.Ser352Phe
NR_148940.3:n.1386C>T
NR_148941.3:n.1386C>T
NR_148942.3:n.1384C>T