Canonical Allele Identifier: CA351502036

Gene: RAF1

Linked Data

• ClinVar Variation Id: 902234
• ClinVar RCV Id: RCV001148649 ; RCV001148648
• dbSNP Id: rs747632183
• MyVariant Identifiers: chr3:g.12632375T>G (hg19) ; chr3:g.12590876T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590876T>G , CM000665.2:g.12590876T>G	GRCh38
NC_000003.11:g.12632375T>G , CM000665.1:g.12632375T>G	GRCh37
NC_000003.10:g.12607375T>G	NCBI36
NG_007467.1:g.78304A>C , LRG_413:g.78304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*957A>C	ENSP00000401088.1:n.*957A>C
ENST00000432427.3:c.609A>C
ENST00000460610.2:n.86A>C
ENST00000465826.6:n.883A>C
ENST00000475353.2:n.1214A>C
ENST00000494557.2:n.1103A>C
ENST00000684903.1:c.*969A>C	ENSP00000508612.1:n.*969A>C
ENST00000685348.1:c.*969A>C	ENSP00000510285.1:n.*969A>C
ENST00000685437.1:c.1193A>C	ENSP00000508794.1:p.Lys398Thr
ENST00000685653.1:c.1292A>C	ENSP00000509968.1:p.Lys431Thr
ENST00000685738.1:c.*256A>C	ENSP00000510156.1:n.*256A>C
ENST00000686409.1:n.2343A>C
ENST00000686455.1:n.1655A>C
ENST00000686762.1:c.1292A>C	ENSP00000509767.1:p.Lys431Thr
ENST00000687257.1:n.1528A>C
ENST00000687326.1:c.*226A>C	ENSP00000509665.1:n.*226A>C
ENST00000687505.1:n.1410A>C
ENST00000687923.1:c.1181A>C	ENSP00000510255.1:p.Lys394Thr
ENST00000687940.1:n.1669A>C
ENST00000688269.1:n.1888A>C
ENST00000688326.1:c.725A>C
ENST00000688444.1:n.1618A>C
ENST00000688543.1:c.1193A>C	ENSP00000509612.1:p.Lys398Thr
ENST00000688625.1:c.*870A>C	ENSP00000509522.1:n.*870A>C
ENST00000688803.1:n.1523A>C
ENST00000688914.1:n.278A>C
ENST00000689097.1:c.*969A>C	ENSP00000509756.1:n.*969A>C
ENST00000689389.1:c.1193+832A>C	ENSP00000510213.1:n.1193+832A>C
ENST00000689418.1:c.*969A>C	ENSP00000509467.1:n.*969A>C
ENST00000689481.1:c.*969A>C	ENSP00000510248.1:n.*969A>C
ENST00000689540.1:n.1442A>C
ENST00000689876.1:c.1292A>C	ENSP00000508535.1:p.Lys431Thr
ENST00000689914.1:c.*226A>C	ENSP00000509847.1:n.*226A>C
ENST00000690397.1:c.1181A>C	ENSP00000508730.1:p.Lys394Thr
ENST00000690460.1:c.1280A>C	ENSP00000509106.1:p.Lys427Thr
ENST00000690585.1:c.184A>C
ENST00000690625.1:n.2328A>C
ENST00000691396.1:c.*1144A>C	ENSP00000510712.1:n.*1144A>C
ENST00000691724.1:c.*249A>C	ENSP00000509255.1:n.*249A>C
ENST00000691779.1:c.*870A>C	ENSP00000508592.1:n.*870A>C
ENST00000691888.1:c.184A>C
ENST00000691899.1:c.1292A>C	ENSP00000508763.1:p.Lys431Thr
ENST00000692069.1:n.1858A>C
ENST00000692093.1:c.1193A>C	ENSP00000509669.1:p.Lys398Thr
ENST00000692311.1:n.2116A>C
ENST00000692558.1:n.1657A>C
ENST00000692773.1:c.*1029A>C	ENSP00000509055.1:n.*1029A>C
ENST00000692830.1:c.*1037A>C	ENSP00000509461.1:n.*1037A>C
ENST00000693069.1:c.*226A>C	ENSP00000510072.1:n.*226A>C
ENST00000693312.1:c.1067A>C	ENSP00000508686.1:p.Lys356Thr
ENST00000693664.1:c.1292A>C	ENSP00000509614.1:p.Lys431Thr
ENST00000693705.1:c.*969A>C	ENSP00000510697.1:n.*969A>C
ENST00000251849.9:c.1292A>C MANE Select	ENSP00000251849.4:p.Lys431Thr
ENST00000442415.7:c.1352A>C	ENSP00000401888.2:p.Lys451Thr
ENST00000251849.8:c.1292A>C	ENSP00000251849.4:p.Lys431Thr
ENST00000423275.5:c.*969A>C	ENSP00000401088.1:n.*969A>C
ENST00000432427.2:c.929A>C	ENSP00000398591.2:p.Lys310Thr
ENST00000442415.6:c.1352A>C	ENSP00000401888.2:p.Lys451Thr
ENST00000460610.1:n.249A>C
ENST00000465826.5:n.649A>C
ENST00000475353.1:n.460A>C
ENST00000494557.1:n.308A>C
NM_002880.3:c.1292A>C , LRG_413t1:c.1292A>C	NP_002871.1:p.Lys431Thr
XM_005265355.1:c.1292A>C	XP_005265412.1:p.Lys431Thr
XM_005265357.1:c.1193A>C	XP_005265414.1:p.Lys398Thr
XM_005265358.3:c.1049A>C	XP_005265415.1:p.Lys350Thr
XM_005265359.3:c.950A>C	XP_005265416.1:p.Lys317Thr
XM_005265360.1:c.1292A>C	XP_005265417.1:p.Lys431Thr
XM_011533974.1:c.1292A>C	XP_011532276.1:p.Lys431Thr
XM_011533975.1:c.1049A>C	XP_011532277.1:p.Lys350Thr
NM_001354689.1:c.1352A>C	NP_001341618.1:p.Lys451Thr
NM_001354690.1:c.1292A>C	NP_001341619.1:p.Lys431Thr
NM_001354691.1:c.1049A>C	NP_001341620.1:p.Lys350Thr
NM_001354692.1:c.1049A>C	NP_001341621.1:p.Lys350Thr
NM_001354693.1:c.1193A>C	NP_001341622.1:p.Lys398Thr
NM_001354694.1:c.1109A>C	NP_001341623.1:p.Lys370Thr
NM_001354695.1:c.950A>C	NP_001341624.1:p.Lys317Thr
NR_148940.1:n.1820A>C
NR_148941.1:n.1766A>C
NR_148942.1:n.1705A>C
XM_011533974.3:c.1292A>C	XP_011532276.1:p.Lys431Thr
XM_017006966.1:c.1193A>C	XP_016862455.1:p.Lys398Thr
NM_001354689.3:c.1352A>C	NP_001341618.1:p.Lys451Thr
NM_001354690.2:c.1292A>C	NP_001341619.1:p.Lys431Thr
NM_001354691.2:c.1049A>C	NP_001341620.1:p.Lys350Thr
NM_001354692.2:c.1049A>C	NP_001341621.1:p.Lys350Thr
NM_001354693.2:c.1193A>C	NP_001341622.1:p.Lys398Thr
NM_001354694.2:c.1109A>C	NP_001341623.1:p.Lys370Thr
NM_001354695.2:c.950A>C	NP_001341624.1:p.Lys317Thr
NR_148940.2:n.1736A>C
NR_148941.2:n.1682A>C
NR_148942.2:n.1621A>C
NM_001354690.3:c.1292A>C	NP_001341619.1:p.Lys431Thr
NM_001354691.3:c.1049A>C	NP_001341620.1:p.Lys350Thr
NM_001354692.3:c.1049A>C	NP_001341621.1:p.Lys350Thr
NM_001354693.3:c.1193A>C	NP_001341622.1:p.Lys398Thr
NM_001354694.3:c.1109A>C	NP_001341623.1:p.Lys370Thr
NM_001354695.3:c.950A>C	NP_001341624.1:p.Lys317Thr
NM_002880.4:c.1292A>C MANE Select	NP_002871.1:p.Lys431Thr
NR_148940.3:n.1736A>C
NR_148941.3:n.1682A>C
NR_148942.3:n.1621A>C