Canonical Allele Identifier: CA541260589
Gene: RAF1 HGNC NCBI

Linked Data

dbSNP Id: rs1473698255
gnomAD v2: 3-12641142-C-A
gnomAD v3: 3-12599643-C-A
gnomAD v4: 3-12599643-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12599643C>A , CM000665.2:g.12599643C>A GRCh38
NC_000003.11:g.12641142C>A , CM000665.1:g.12641142C>A GRCh37
NC_000003.10:g.12616142C>A NCBI36
NG_007467.1:g.69537G>T , LRG_413:g.69537G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000423275.6:c.*773+48G>T ENSP00000401088.1:n.*773+48G>T
ENST00000432427.3:c.428+48G>T
ENST00000465826.6:n.699+48G>T
ENST00000491290.2:n.1485+48G>T
ENST00000684903.1:c.*785+48G>T ENSP00000508612.1:n.*785+48G>T
ENST00000685348.1:c.*785+48G>T ENSP00000510285.1:n.*785+48G>T
ENST00000685437.1:c.1009+48G>T ENSP00000508794.1:n.1009+48G>T
ENST00000685653.1:c.1108+48G>T ENSP00000509968.1:n.1108+48G>T
ENST00000685738.1:c.1108+48G>T ENSP00000510156.1:n.1108+48G>T
ENST00000686409.1:n.2159+48G>T
ENST00000686455.1:n.1471+48G>T
ENST00000686479.1:n.1527G>T
ENST00000686762.1:c.1108+48G>T ENSP00000509767.1:n.1108+48G>T
ENST00000687257.1:n.1344+48G>T
ENST00000687326.1:c.1108+48G>T ENSP00000509665.1:n.1108+48G>T
ENST00000687486.1:c.300+48G>T
ENST00000687505.1:n.1226+48G>T
ENST00000687923.1:c.997+60G>T ENSP00000510255.1:n.997+60G>T
ENST00000687940.1:n.1485+48G>T
ENST00000688269.1:n.1704+48G>T
ENST00000688326.1:c.428+48G>T
ENST00000688444.1:n.1434+48G>T
ENST00000688543.1:c.1009+48G>T ENSP00000509612.1:n.1009+48G>T
ENST00000688625.1:c.*686+48G>T ENSP00000509522.1:n.*686+48G>T
ENST00000688803.1:n.1339+48G>T
ENST00000688914.1:n.94+48G>T
ENST00000689097.1:c.*785+48G>T ENSP00000509756.1:n.*785+48G>T
ENST00000689389.1:c.1108+48G>T ENSP00000510213.1:n.1108+48G>T
ENST00000689418.1:c.*785+48G>T ENSP00000509467.1:n.*785+48G>T
ENST00000689481.1:c.*785+48G>T ENSP00000510248.1:n.*785+48G>T
ENST00000689540.1:n.1258+48G>T
ENST00000689876.1:c.1108+48G>T ENSP00000508535.1:n.1108+48G>T
ENST00000689914.1:c.1108+48G>T ENSP00000509847.1:n.1108+48G>T
ENST00000690397.1:c.997+48G>T ENSP00000508730.1:n.997+48G>T
ENST00000690460.1:c.1096+48G>T ENSP00000509106.1:n.1096+48G>T
ENST00000690625.1:n.1411+48G>T
ENST00000691396.1:c.*901+48G>T ENSP00000510712.1:n.*901+48G>T
ENST00000691724.1:c.*65+48G>T ENSP00000509255.1:n.*65+48G>T
ENST00000691779.1:c.*686+48G>T ENSP00000508592.1:n.*686+48G>T
ENST00000691899.1:c.1108+48G>T ENSP00000508763.1:n.1108+48G>T
ENST00000692069.1:n.1674+48G>T
ENST00000692093.1:c.1009+48G>T ENSP00000509669.1:n.1009+48G>T
ENST00000692311.1:n.1932+48G>T
ENST00000692558.1:n.1473+48G>T
ENST00000692773.1:c.*845+48G>T ENSP00000509055.1:n.*845+48G>T
ENST00000692830.1:c.*853+48G>T ENSP00000509461.1:n.*853+48G>T
ENST00000693069.1:c.1009+48G>T ENSP00000510072.1:n.1009+48G>T
ENST00000693312.1:c.883+48G>T ENSP00000508686.1:n.883+48G>T
ENST00000693664.1:c.1108+48G>T ENSP00000509614.1:n.1108+48G>T
ENST00000693705.1:c.*785+48G>T ENSP00000510697.1:n.*785+48G>T
ENST00000251849.9:c.1108+48G>T MANE Select ENSP00000251849.4:n.1108+48G>T
ENST00000442415.7:c.1168+48G>T ENSP00000401888.2:n.1168+48G>T
ENST00000251849.8:c.1108+48G>T ENSP00000251849.4:n.1108+48G>T
ENST00000423275.5:c.*785+48G>T ENSP00000401088.1:n.*785+48G>T
ENST00000432427.2:c.745+48G>T ENSP00000398591.2:n.745+48G>T
ENST00000442415.6:c.1168+48G>T ENSP00000401888.2:n.1168+48G>T
ENST00000460610.1:n.65+48G>T
ENST00000465826.5:n.352+48G>T
NM_002880.3:c.1108+48G>T , LRG_413t1:c.1108+48G>T NP_002871.1:n.1108+48G>T
XM_005265355.1:c.1108+48G>T XP_005265412.1:n.1108+48G>T
XM_005265357.1:c.1009+48G>T XP_005265414.1:n.1009+48G>T
XM_005265358.3:c.865+48G>T XP_005265415.1:n.865+48G>T
XM_005265359.3:c.766+48G>T XP_005265416.1:n.766+48G>T
XM_005265360.1:c.1108+48G>T XP_005265417.1:n.1108+48G>T
XM_011533974.1:c.1108+48G>T XP_011532276.1:n.1108+48G>T
XM_011533975.1:c.865+48G>T XP_011532277.1:n.865+48G>T
NM_001354689.1:c.1168+48G>T NP_001341618.1:n.1168+48G>T
NM_001354690.1:c.1108+48G>T NP_001341619.1:n.1108+48G>T
NM_001354691.1:c.865+48G>T NP_001341620.1:n.865+48G>T
NM_001354692.1:c.865+48G>T NP_001341621.1:n.865+48G>T
NM_001354693.1:c.1009+48G>T NP_001341622.1:n.1009+48G>T
NM_001354694.1:c.925+48G>T NP_001341623.1:n.925+48G>T
NM_001354695.1:c.766+48G>T NP_001341624.1:n.766+48G>T
NR_148940.1:n.1523+48G>T
NR_148941.1:n.1523+48G>T
NR_148942.1:n.1521+48G>T
XM_011533974.3:c.1108+48G>T XP_011532276.1:n.1108+48G>T
XM_017006966.1:c.1009+48G>T XP_016862455.1:n.1009+48G>T
XR_001740227.1:n.1340+48G>T
NM_001354689.3:c.1168+48G>T NP_001341618.1:n.1168+48G>T
NM_001354690.2:c.1108+48G>T NP_001341619.1:n.1108+48G>T
NM_001354691.2:c.865+48G>T NP_001341620.1:n.865+48G>T
NM_001354692.2:c.865+48G>T NP_001341621.1:n.865+48G>T
NM_001354693.2:c.1009+48G>T NP_001341622.1:n.1009+48G>T
NM_001354694.2:c.925+48G>T NP_001341623.1:n.925+48G>T
NM_001354695.2:c.766+48G>T NP_001341624.1:n.766+48G>T
NR_148940.2:n.1439+48G>T
NR_148941.2:n.1439+48G>T
NR_148942.2:n.1437+48G>T
NM_001354690.3:c.1108+48G>T NP_001341619.1:n.1108+48G>T
NM_001354691.3:c.865+48G>T NP_001341620.1:n.865+48G>T
NM_001354692.3:c.865+48G>T NP_001341621.1:n.865+48G>T
NM_001354693.3:c.1009+48G>T NP_001341622.1:n.1009+48G>T
NM_001354694.3:c.925+48G>T NP_001341623.1:n.925+48G>T
NM_001354695.3:c.766+48G>T NP_001341624.1:n.766+48G>T
NM_002880.4:c.1108+48G>T MANE Select NP_002871.1:n.1108+48G>T
NR_148940.3:n.1439+48G>T
NR_148941.3:n.1439+48G>T
NR_148942.3:n.1437+48G>T