Canonical Allele Identifier: CA351516780
Gene: RAF1 HGNC NCBI

Linked Data

gnomAD v4: 3-12608829-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12608829T>G , CM000665.2:g.12608829T>G GRCh38
NC_000003.11:g.12650328T>G , CM000665.1:g.12650328T>G GRCh37
NC_000003.10:g.12625328T>G NCBI36
NG_007467.1:g.60351A>C , LRG_413:g.60351A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000416093.2:c.*195A>C ENSP00000391265.2:n.*195A>C
ENST00000423275.6:c.*195A>C ENSP00000401088.1:n.*195A>C
ENST00000491290.2:n.895A>C
ENST00000684903.1:c.*195A>C ENSP00000508612.1:n.*195A>C
ENST00000685348.1:c.*195A>C ENSP00000510285.1:n.*195A>C
ENST00000685437.1:c.518A>C ENSP00000508794.1:p.His173Pro
ENST00000685653.1:c.518A>C ENSP00000509968.1:p.His173Pro
ENST00000685738.1:c.518A>C ENSP00000510156.1:p.His173Pro
ENST00000685740.1:c.518A>C ENSP00000510566.1:p.His173Pro
ENST00000685959.1:c.518A>C ENSP00000510452.1:p.His173Pro
ENST00000686409.1:n.1118A>C
ENST00000686455.1:n.881A>C
ENST00000686479.1:n.889A>C
ENST00000686762.1:c.518A>C ENSP00000509767.1:p.His173Pro
ENST00000687257.1:n.853A>C
ENST00000687326.1:c.518A>C ENSP00000509665.1:p.His173Pro
ENST00000687348.1:c.*127A>C ENSP00000509787.1:n.*127A>C
ENST00000687923.1:c.518A>C ENSP00000510255.1:p.His173Pro
ENST00000687940.1:n.895A>C
ENST00000688269.1:n.1126A>C
ENST00000688444.1:n.844A>C
ENST00000688543.1:c.518A>C ENSP00000509612.1:p.His173Pro
ENST00000688625.1:c.*195A>C ENSP00000509522.1:n.*195A>C
ENST00000688753.1:c.518A>C ENSP00000508771.1:p.His173Pro
ENST00000688803.1:n.848A>C
ENST00000689033.1:c.518A>C ENSP00000508983.1:p.His173Pro
ENST00000689097.1:c.*195A>C ENSP00000509756.1:n.*195A>C
ENST00000689226.1:c.518A>C ENSP00000510613.1:p.His173Pro
ENST00000689389.1:c.518A>C ENSP00000510213.1:p.His173Pro
ENST00000689418.1:c.*195A>C ENSP00000509467.1:n.*195A>C
ENST00000689481.1:c.*195A>C ENSP00000510248.1:n.*195A>C
ENST00000689540.1:n.668A>C
ENST00000689876.1:c.518A>C ENSP00000508535.1:p.His173Pro
ENST00000689914.1:c.518A>C ENSP00000509847.1:p.His173Pro
ENST00000690397.1:c.518A>C ENSP00000508730.1:p.His173Pro
ENST00000690460.1:c.518A>C ENSP00000509106.1:p.His173Pro
ENST00000690625.1:n.821A>C
ENST00000691268.1:c.198A>C
ENST00000691396.1:c.*311A>C ENSP00000510712.1:n.*311A>C
ENST00000691718.1:c.518A>C ENSP00000510160.1:p.His173Pro
ENST00000691724.1:c.518A>C ENSP00000509255.1:p.His173Pro
ENST00000691779.1:c.*195A>C ENSP00000508592.1:n.*195A>C
ENST00000691899.1:c.518A>C ENSP00000508763.1:p.His173Pro
ENST00000692093.1:c.518A>C ENSP00000509669.1:p.His173Pro
ENST00000692311.1:n.891A>C
ENST00000692558.1:n.883A>C
ENST00000692773.1:c.*195A>C ENSP00000509055.1:n.*195A>C
ENST00000692777.1:n.846A>C
ENST00000692830.1:c.*263A>C ENSP00000509461.1:n.*263A>C
ENST00000692959.1:c.518A>C ENSP00000509353.1:p.His173Pro
ENST00000693069.1:c.518A>C ENSP00000510072.1:p.His173Pro
ENST00000693312.1:c.293A>C ENSP00000508686.1:p.His98Pro
ENST00000693664.1:c.518A>C ENSP00000509614.1:p.His173Pro
ENST00000693705.1:c.*195A>C ENSP00000510697.1:n.*195A>C
ENST00000251849.9:c.518A>C MANE Select ENSP00000251849.4:p.His173Pro
ENST00000442415.7:c.518A>C ENSP00000401888.2:p.His173Pro
ENST00000251849.8:c.518A>C ENSP00000251849.4:p.His173Pro
ENST00000416093.1:c.*195A>C ENSP00000391265.1:n.*195A>C
ENST00000423275.5:c.*195A>C ENSP00000401088.1:n.*195A>C
ENST00000432427.2:c.254A>C ENSP00000398591.2:p.His85Pro
ENST00000442415.6:c.518A>C ENSP00000401888.2:p.His173Pro
ENST00000491290.1:n.39A>C
ENST00000492690.1:n.250A>C
NM_002880.3:c.518A>C , LRG_413t1:c.518A>C NP_002871.1:p.His173Pro
XM_005265355.1:c.518A>C XP_005265412.1:p.His173Pro
XM_005265357.1:c.518A>C XP_005265414.1:p.His173Pro
XM_005265358.3:c.275A>C XP_005265415.1:p.His92Pro
XM_005265359.3:c.275A>C XP_005265416.1:p.His92Pro
XM_005265360.1:c.518A>C XP_005265417.1:p.His173Pro
XM_011533974.1:c.518A>C XP_011532276.1:p.His173Pro
XM_011533975.1:c.275A>C XP_011532277.1:p.His92Pro
NM_001354689.1:c.518A>C NP_001341618.1:p.His173Pro
NM_001354690.1:c.518A>C NP_001341619.1:p.His173Pro
NM_001354691.1:c.275A>C NP_001341620.1:p.His92Pro
NM_001354692.1:c.275A>C NP_001341621.1:p.His92Pro
NM_001354693.1:c.518A>C NP_001341622.1:p.His173Pro
NM_001354694.1:c.275A>C NP_001341623.1:p.His92Pro
NM_001354695.1:c.275A>C NP_001341624.1:p.His92Pro
NR_148940.1:n.933A>C
NR_148941.1:n.933A>C
NR_148942.1:n.933A>C
XM_011533974.3:c.518A>C XP_011532276.1:p.His173Pro
XM_017006966.1:c.518A>C XP_016862455.1:p.His173Pro
XR_001740227.1:n.849A>C
NM_001354689.3:c.518A>C NP_001341618.1:p.His173Pro
NM_001354690.2:c.518A>C NP_001341619.1:p.His173Pro
NM_001354691.2:c.275A>C NP_001341620.1:p.His92Pro
NM_001354692.2:c.275A>C NP_001341621.1:p.His92Pro
NM_001354693.2:c.518A>C NP_001341622.1:p.His173Pro
NM_001354694.2:c.275A>C NP_001341623.1:p.His92Pro
NM_001354695.2:c.275A>C NP_001341624.1:p.His92Pro
NR_148940.2:n.849A>C
NR_148941.2:n.849A>C
NR_148942.2:n.849A>C
NM_001354690.3:c.518A>C NP_001341619.1:p.His173Pro
NM_001354691.3:c.275A>C NP_001341620.1:p.His92Pro
NM_001354692.3:c.275A>C NP_001341621.1:p.His92Pro
NM_001354693.3:c.518A>C NP_001341622.1:p.His173Pro
NM_001354694.3:c.275A>C NP_001341623.1:p.His92Pro
NM_001354695.3:c.275A>C NP_001341624.1:p.His92Pro
NM_002880.4:c.518A>C MANE Select NP_002871.1:p.His173Pro
NR_148940.3:n.849A>C
NR_148941.3:n.849A>C
NR_148942.3:n.849A>C