Canonical Allele Identifier: CA351509910

Gene: RAF1

Linked Data

• dbSNP Id: rs1487959530
• gnomAD v2: 3-12641891-T-G
• gnomAD v4: 3-12600392-T-G
• MyVariant Identifiers: chr3:g.12641891T>G (hg19) ; chr3:g.12600392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12600392T>G , CM000665.2:g.12600392T>G	GRCh38
NC_000003.11:g.12641891T>G , CM000665.1:g.12641891T>G	GRCh37
NC_000003.10:g.12616891T>G	NCBI36
NG_007467.1:g.68788A>C , LRG_413:g.68788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*535A>C	ENSP00000401088.1:n.*535A>C
ENST00000432427.3:c.178A>C
ENST00000465826.6:n.449A>C
ENST00000491290.2:n.1235A>C
ENST00000684903.1:c.*535A>C	ENSP00000508612.1:n.*535A>C
ENST00000685348.1:c.*535A>C	ENSP00000510285.1:n.*535A>C
ENST00000685437.1:c.759A>C	ENSP00000508794.1:p.Glu253Asp
ENST00000685438.1:n.622A>C
ENST00000685653.1:c.858A>C	ENSP00000509968.1:p.Glu286Asp
ENST00000685738.1:c.858A>C	ENSP00000510156.1:p.Glu286Asp
ENST00000686409.1:n.1458A>C
ENST00000686455.1:n.1221A>C
ENST00000686479.1:n.1229A>C
ENST00000686762.1:c.858A>C	ENSP00000509767.1:p.Glu286Asp
ENST00000687257.1:n.1094A>C
ENST00000687326.1:c.858A>C	ENSP00000509665.1:p.Glu286Asp
ENST00000687486.1:c.178A>C
ENST00000687505.1:n.976A>C
ENST00000687923.1:c.759A>C	ENSP00000510255.1:p.Glu253Asp
ENST00000687940.1:n.1235A>C
ENST00000688269.1:n.1466A>C
ENST00000688326.1:c.178A>C
ENST00000688444.1:n.1184A>C
ENST00000688543.1:c.759A>C	ENSP00000509612.1:p.Glu253Asp
ENST00000688625.1:c.*436A>C	ENSP00000509522.1:n.*436A>C
ENST00000688803.1:n.1089A>C
ENST00000689097.1:c.*535A>C	ENSP00000509756.1:n.*535A>C
ENST00000689389.1:c.858A>C	ENSP00000510213.1:p.Glu286Asp
ENST00000689418.1:c.*535A>C	ENSP00000509467.1:n.*535A>C
ENST00000689481.1:c.*535A>C	ENSP00000510248.1:n.*535A>C
ENST00000689540.1:n.1008A>C
ENST00000689876.1:c.858A>C	ENSP00000508535.1:p.Glu286Asp
ENST00000689914.1:c.858A>C	ENSP00000509847.1:p.Glu286Asp
ENST00000690397.1:c.759A>C	ENSP00000508730.1:p.Glu253Asp
ENST00000690460.1:c.858A>C	ENSP00000509106.1:p.Glu286Asp
ENST00000690625.1:n.1161A>C
ENST00000691268.1:c.285A>C
ENST00000691396.1:c.*651A>C	ENSP00000510712.1:n.*651A>C
ENST00000691724.1:c.858A>C	ENSP00000509255.1:p.Glu286Asp
ENST00000691779.1:c.*436A>C	ENSP00000508592.1:n.*436A>C
ENST00000691899.1:c.858A>C	ENSP00000508763.1:p.Glu286Asp
ENST00000692069.1:n.973A>C
ENST00000692093.1:c.759A>C	ENSP00000509669.1:p.Glu253Asp
ENST00000692311.1:n.1231A>C
ENST00000692558.1:n.1223A>C
ENST00000692773.1:c.*595A>C	ENSP00000509055.1:n.*595A>C
ENST00000692830.1:c.*603A>C	ENSP00000509461.1:n.*603A>C
ENST00000693069.1:c.759A>C	ENSP00000510072.1:p.Glu253Asp
ENST00000693312.1:c.633A>C	ENSP00000508686.1:p.Glu211Asp
ENST00000693664.1:c.858A>C	ENSP00000509614.1:p.Glu286Asp
ENST00000693705.1:c.*535A>C	ENSP00000510697.1:n.*535A>C
ENST00000251849.9:c.858A>C MANE Select	ENSP00000251849.4:p.Glu286Asp
ENST00000442415.7:c.918A>C	ENSP00000401888.2:p.Glu306Asp
ENST00000251849.8:c.858A>C	ENSP00000251849.4:p.Glu286Asp
ENST00000423275.5:c.*535A>C	ENSP00000401088.1:n.*535A>C
ENST00000432427.2:c.495A>C	ENSP00000398591.2:p.Glu165Asp
ENST00000442415.6:c.918A>C	ENSP00000401888.2:p.Glu306Asp
ENST00000465826.5:n.102A>C
ENST00000491290.1:n.379A>C
NM_002880.3:c.858A>C , LRG_413t1:c.858A>C	NP_002871.1:p.Glu286Asp
XM_005265355.1:c.858A>C	XP_005265412.1:p.Glu286Asp
XM_005265357.1:c.759A>C	XP_005265414.1:p.Glu253Asp
XM_005265358.3:c.615A>C	XP_005265415.1:p.Glu205Asp
XM_005265359.3:c.516A>C	XP_005265416.1:p.Glu172Asp
XM_005265360.1:c.858A>C	XP_005265417.1:p.Glu286Asp
XM_011533974.1:c.858A>C	XP_011532276.1:p.Glu286Asp
XM_011533975.1:c.615A>C	XP_011532277.1:p.Glu205Asp
NM_001354689.1:c.918A>C	NP_001341618.1:p.Glu306Asp
NM_001354690.1:c.858A>C	NP_001341619.1:p.Glu286Asp
NM_001354691.1:c.615A>C	NP_001341620.1:p.Glu205Asp
NM_001354692.1:c.615A>C	NP_001341621.1:p.Glu205Asp
NM_001354693.1:c.759A>C	NP_001341622.1:p.Glu253Asp
NM_001354694.1:c.675A>C	NP_001341623.1:p.Glu225Asp
NM_001354695.1:c.516A>C	NP_001341624.1:p.Glu172Asp
NR_148940.1:n.1273A>C
NR_148941.1:n.1273A>C
NR_148942.1:n.1273A>C
XM_011533974.3:c.858A>C	XP_011532276.1:p.Glu286Asp
XM_017006966.1:c.759A>C	XP_016862455.1:p.Glu253Asp
XR_001740227.1:n.1090A>C
NM_001354689.3:c.918A>C	NP_001341618.1:p.Glu306Asp
NM_001354690.2:c.858A>C	NP_001341619.1:p.Glu286Asp
NM_001354691.2:c.615A>C	NP_001341620.1:p.Glu205Asp
NM_001354692.2:c.615A>C	NP_001341621.1:p.Glu205Asp
NM_001354693.2:c.759A>C	NP_001341622.1:p.Glu253Asp
NM_001354694.2:c.675A>C	NP_001341623.1:p.Glu225Asp
NM_001354695.2:c.516A>C	NP_001341624.1:p.Glu172Asp
NR_148940.2:n.1189A>C
NR_148941.2:n.1189A>C
NR_148942.2:n.1189A>C
NM_001354690.3:c.858A>C	NP_001341619.1:p.Glu286Asp
NM_001354691.3:c.615A>C	NP_001341620.1:p.Glu205Asp
NM_001354692.3:c.615A>C	NP_001341621.1:p.Glu205Asp
NM_001354693.3:c.759A>C	NP_001341622.1:p.Glu253Asp
NM_001354694.3:c.675A>C	NP_001341623.1:p.Glu225Asp
NM_001354695.3:c.516A>C	NP_001341624.1:p.Glu172Asp
NM_002880.4:c.858A>C MANE Select	NP_002871.1:p.Glu286Asp
NR_148940.3:n.1189A>C
NR_148941.3:n.1189A>C
NR_148942.3:n.1189A>C