Canonical Allele Identifier: CA351512557

Gene: RAF1

Linked Data

• ClinVar Variation Id: 1983107
• ClinVar RCV Id: RCV002770081
• gnomAD v4: 3-12604212-T-G
• MyVariant Identifiers: chr3:g.12645711T>G (hg19) ; chr3:g.12604212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12604212T>G , CM000665.2:g.12604212T>G	GRCh38
NC_000003.11:g.12645711T>G , CM000665.1:g.12645711T>G	GRCh37
NC_000003.10:g.12620711T>G	NCBI36
NG_007467.1:g.64968A>C , LRG_413:g.64968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416093.2:c.*435A>C	ENSP00000391265.2:n.*435A>C
ENST00000423275.6:c.*435A>C	ENSP00000401088.1:n.*435A>C
ENST00000432427.3:c.78A>C
ENST00000465826.6:n.349A>C
ENST00000491290.2:n.1135A>C
ENST00000684903.1:c.*435A>C	ENSP00000508612.1:n.*435A>C
ENST00000685348.1:c.*435A>C	ENSP00000510285.1:n.*435A>C
ENST00000685437.1:c.659A>C	ENSP00000508794.1:p.Gln220Pro
ENST00000685653.1:c.758A>C	ENSP00000509968.1:p.Gln253Pro
ENST00000685738.1:c.758A>C	ENSP00000510156.1:p.Gln253Pro
ENST00000685959.1:c.758A>C	ENSP00000510452.1:p.Gln253Pro
ENST00000686409.1:n.1358A>C
ENST00000686455.1:n.1121A>C
ENST00000686479.1:n.1129A>C
ENST00000686762.1:c.758A>C	ENSP00000509767.1:p.Gln253Pro
ENST00000687257.1:n.994A>C
ENST00000687326.1:c.758A>C	ENSP00000509665.1:p.Gln253Pro
ENST00000687486.1:c.78A>C
ENST00000687505.1:n.876A>C
ENST00000687923.1:c.659A>C	ENSP00000510255.1:p.Gln220Pro
ENST00000687940.1:n.1135A>C
ENST00000688269.1:n.1366A>C
ENST00000688326.1:c.78A>C
ENST00000688444.1:n.1084A>C
ENST00000688543.1:c.659A>C	ENSP00000509612.1:p.Gln220Pro
ENST00000688625.1:c.*336A>C	ENSP00000509522.1:n.*336A>C
ENST00000688803.1:n.989A>C
ENST00000689033.1:c.758A>C	ENSP00000508983.1:p.Gln253Pro
ENST00000689097.1:c.*435A>C	ENSP00000509756.1:n.*435A>C
ENST00000689389.1:c.758A>C	ENSP00000510213.1:p.Gln253Pro
ENST00000689418.1:c.*435A>C	ENSP00000509467.1:n.*435A>C
ENST00000689481.1:c.*435A>C	ENSP00000510248.1:n.*435A>C
ENST00000689540.1:n.908A>C
ENST00000689876.1:c.758A>C	ENSP00000508535.1:p.Gln253Pro
ENST00000689914.1:c.758A>C	ENSP00000509847.1:p.Gln253Pro
ENST00000690397.1:c.659A>C	ENSP00000508730.1:p.Gln220Pro
ENST00000690460.1:c.758A>C	ENSP00000509106.1:p.Gln253Pro
ENST00000690625.1:n.1061A>C
ENST00000691268.1:c.262-3797A>C
ENST00000691396.1:c.*551A>C	ENSP00000510712.1:n.*551A>C
ENST00000691724.1:c.758A>C	ENSP00000509255.1:p.Gln253Pro
ENST00000691779.1:c.*336A>C	ENSP00000508592.1:n.*336A>C
ENST00000691899.1:c.758A>C	ENSP00000508763.1:p.Gln253Pro
ENST00000692093.1:c.659A>C	ENSP00000509669.1:p.Gln220Pro
ENST00000692311.1:n.1131A>C
ENST00000692558.1:n.1123A>C
ENST00000692773.1:c.*435A>C	ENSP00000509055.1:n.*435A>C
ENST00000692830.1:c.*503A>C	ENSP00000509461.1:n.*503A>C
ENST00000693069.1:c.659A>C	ENSP00000510072.1:p.Gln220Pro
ENST00000693312.1:c.533A>C	ENSP00000508686.1:p.Gln178Pro
ENST00000693664.1:c.758A>C	ENSP00000509614.1:p.Gln253Pro
ENST00000693705.1:c.*435A>C	ENSP00000510697.1:n.*435A>C
ENST00000251849.9:c.758A>C MANE Select	ENSP00000251849.4:p.Gln253Pro
ENST00000442415.7:c.758A>C	ENSP00000401888.2:p.Gln253Pro
ENST00000251849.8:c.758A>C	ENSP00000251849.4:p.Gln253Pro
ENST00000416093.1:c.*336A>C	ENSP00000391265.1:n.*336A>C
ENST00000423275.5:c.*435A>C	ENSP00000401088.1:n.*435A>C
ENST00000432427.2:c.395A>C	ENSP00000398591.2:p.Gln132Pro
ENST00000442415.6:c.758A>C	ENSP00000401888.2:p.Gln253Pro
ENST00000465826.5:n.2A>C
ENST00000491290.1:n.279A>C
NM_002880.3:c.758A>C , LRG_413t1:c.758A>C	NP_002871.1:p.Gln253Pro
XM_005265355.1:c.758A>C	XP_005265412.1:p.Gln253Pro
XM_005265357.1:c.659A>C	XP_005265414.1:p.Gln220Pro
XM_005265358.3:c.515A>C	XP_005265415.1:p.Gln172Pro
XM_005265359.3:c.416A>C	XP_005265416.1:p.Gln139Pro
XM_005265360.1:c.758A>C	XP_005265417.1:p.Gln253Pro
XM_011533974.1:c.758A>C	XP_011532276.1:p.Gln253Pro
XM_011533975.1:c.515A>C	XP_011532277.1:p.Gln172Pro
NM_001354689.1:c.758A>C	NP_001341618.1:p.Gln253Pro
NM_001354690.1:c.758A>C	NP_001341619.1:p.Gln253Pro
NM_001354691.1:c.515A>C	NP_001341620.1:p.Gln172Pro
NM_001354692.1:c.515A>C	NP_001341621.1:p.Gln172Pro
NM_001354693.1:c.659A>C	NP_001341622.1:p.Gln220Pro
NM_001354694.1:c.515A>C	NP_001341623.1:p.Gln172Pro
NM_001354695.1:c.416A>C	NP_001341624.1:p.Gln139Pro
NR_148940.1:n.1173A>C
NR_148941.1:n.1173A>C
NR_148942.1:n.1173A>C
XM_011533974.3:c.758A>C	XP_011532276.1:p.Gln253Pro
XM_017006966.1:c.659A>C	XP_016862455.1:p.Gln220Pro
XR_001740227.1:n.990A>C
NM_001354689.3:c.758A>C	NP_001341618.1:p.Gln253Pro
NM_001354690.2:c.758A>C	NP_001341619.1:p.Gln253Pro
NM_001354691.2:c.515A>C	NP_001341620.1:p.Gln172Pro
NM_001354692.2:c.515A>C	NP_001341621.1:p.Gln172Pro
NM_001354693.2:c.659A>C	NP_001341622.1:p.Gln220Pro
NM_001354694.2:c.515A>C	NP_001341623.1:p.Gln172Pro
NM_001354695.2:c.416A>C	NP_001341624.1:p.Gln139Pro
NR_148940.2:n.1089A>C
NR_148941.2:n.1089A>C
NR_148942.2:n.1089A>C
NM_001354690.3:c.758A>C	NP_001341619.1:p.Gln253Pro
NM_001354691.3:c.515A>C	NP_001341620.1:p.Gln172Pro
NM_001354692.3:c.515A>C	NP_001341621.1:p.Gln172Pro
NM_001354693.3:c.659A>C	NP_001341622.1:p.Gln220Pro
NM_001354694.3:c.515A>C	NP_001341623.1:p.Gln172Pro
NM_001354695.3:c.416A>C	NP_001341624.1:p.Gln139Pro
NM_002880.4:c.758A>C MANE Select	NP_002871.1:p.Gln253Pro
NR_148940.3:n.1089A>C
NR_148941.3:n.1089A>C
NR_148942.3:n.1089A>C