Canonical Allele Identifier: CA351507193
Community Standard Title: NM_002880.4(RAF1):c.1099A>C (p.Lys367Gln)
Gene: RAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12599700T>G , CM000665.2:g.12599700T>G GRCh38
NC_000003.11:g.12641199T>G , CM000665.1:g.12641199T>G GRCh37
NC_000003.10:g.12616199T>G NCBI36
NG_007467.1:g.69480A>C , LRG_413:g.69480A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002880.4:c.1099A>C MANE Select NP_002871.1:p.Lys367Gln
ENST00000251849.9:c.1099A>C MANE Select ENSP00000251849.4:p.Lys367Gln
NM_001354689.1:c.1159A>C NP_001341618.1:p.Lys387Gln
NM_001354689.3:c.1159A>C NP_001341618.1:p.Lys387Gln
NM_001354690.1:c.1099A>C NP_001341619.1:p.Lys367Gln
NM_001354690.2:c.1099A>C NP_001341619.1:p.Lys367Gln
NM_001354690.3:c.1099A>C NP_001341619.1:p.Lys367Gln
NM_001354691.1:c.856A>C NP_001341620.1:p.Lys286Gln
NM_001354691.2:c.856A>C NP_001341620.1:p.Lys286Gln
NM_001354691.3:c.856A>C NP_001341620.1:p.Lys286Gln
NM_001354692.1:c.856A>C NP_001341621.1:p.Lys286Gln
NM_001354692.2:c.856A>C NP_001341621.1:p.Lys286Gln
NM_001354692.3:c.856A>C NP_001341621.1:p.Lys286Gln
NM_001354693.1:c.1000A>C NP_001341622.1:p.Lys334Gln
NM_001354693.2:c.1000A>C NP_001341622.1:p.Lys334Gln
NM_001354693.3:c.1000A>C NP_001341622.1:p.Lys334Gln
NM_001354694.1:c.916A>C NP_001341623.1:p.Lys306Gln
NM_001354694.2:c.916A>C NP_001341623.1:p.Lys306Gln
NM_001354694.3:c.916A>C NP_001341623.1:p.Lys306Gln
NM_001354695.1:c.757A>C NP_001341624.1:p.Lys253Gln
NM_001354695.2:c.757A>C NP_001341624.1:p.Lys253Gln
NM_001354695.3:c.757A>C NP_001341624.1:p.Lys253Gln
NM_002880.3:c.1099A>C , LRG_413t1:c.1099A>C NP_002871.1:p.Lys367Gln
NR_148940.1:n.1514A>C
NR_148940.2:n.1430A>C
NR_148940.3:n.1430A>C
NR_148941.1:n.1514A>C
NR_148941.2:n.1430A>C
NR_148941.3:n.1430A>C
NR_148942.1:n.1512A>C
NR_148942.2:n.1428A>C
NR_148942.3:n.1428A>C
ENST00000251849.8:c.1099A>C ENSP00000251849.4:p.Lys367Gln
ENST00000423275.5:c.*776A>C ENSP00000401088.1:n.*776A>C
ENST00000423275.6:c.*764A>C ENSP00000401088.1:n.*764A>C
ENST00000432427.2:c.736A>C ENSP00000398591.2:p.Lys246Gln
ENST00000432427.3:c.419A>C
ENST00000442415.6:c.1159A>C ENSP00000401888.2:p.Lys387Gln
ENST00000442415.7:c.1159A>C ENSP00000401888.2:p.Lys387Gln
ENST00000460610.1:n.56A>C
ENST00000465826.5:n.343A>C
ENST00000465826.6:n.690A>C
ENST00000491290.2:n.1476A>C
ENST00000684903.1:c.*776A>C ENSP00000508612.1:n.*776A>C
ENST00000685348.1:c.*776A>C ENSP00000510285.1:n.*776A>C
ENST00000685437.1:c.1000A>C ENSP00000508794.1:p.Lys334Gln
ENST00000685653.1:c.1099A>C ENSP00000509968.1:p.Lys367Gln
ENST00000685738.1:c.1099A>C ENSP00000510156.1:p.Lys367Gln
ENST00000686409.1:n.2150A>C
ENST00000686455.1:n.1462A>C
ENST00000686479.1:n.1470A>C
ENST00000686762.1:c.1099A>C ENSP00000509767.1:p.Lys367Gln
ENST00000687257.1:n.1335A>C
ENST00000687326.1:c.1099A>C ENSP00000509665.1:p.Lys367Gln
ENST00000687486.1:c.291A>C
ENST00000687505.1:n.1217A>C
ENST00000687923.1:c.997+3A>C ENSP00000510255.1:n.997+3A>C
ENST00000687940.1:n.1476A>C
ENST00000688269.1:n.1695A>C
ENST00000688326.1:c.419A>C
ENST00000688444.1:n.1425A>C
ENST00000688543.1:c.1000A>C ENSP00000509612.1:p.Lys334Gln
ENST00000688625.1:c.*677A>C ENSP00000509522.1:n.*677A>C
ENST00000688803.1:n.1330A>C
ENST00000688914.1:n.85A>C
ENST00000689097.1:c.*776A>C ENSP00000509756.1:n.*776A>C
ENST00000689389.1:c.1099A>C ENSP00000510213.1:p.Lys367Gln
ENST00000689418.1:c.*776A>C ENSP00000509467.1:n.*776A>C
ENST00000689481.1:c.*776A>C ENSP00000510248.1:n.*776A>C
ENST00000689540.1:n.1249A>C
ENST00000689876.1:c.1099A>C ENSP00000508535.1:p.Lys367Gln
ENST00000689914.1:c.1099A>C ENSP00000509847.1:p.Lys367Gln
ENST00000690397.1:c.988A>C ENSP00000508730.1:p.Lys330Gln
ENST00000690460.1:c.1087A>C ENSP00000509106.1:p.Lys363Gln
ENST00000690625.1:n.1402A>C
ENST00000691268.1:c.526A>C
ENST00000691396.1:c.*892A>C ENSP00000510712.1:n.*892A>C
ENST00000691724.1:c.*56A>C ENSP00000509255.1:n.*56A>C
ENST00000691779.1:c.*677A>C ENSP00000508592.1:n.*677A>C
ENST00000691899.1:c.1099A>C ENSP00000508763.1:p.Lys367Gln
ENST00000692069.1:n.1665A>C
ENST00000692093.1:c.1000A>C ENSP00000509669.1:p.Lys334Gln
ENST00000692311.1:n.1923A>C
ENST00000692558.1:n.1464A>C
ENST00000692773.1:c.*836A>C ENSP00000509055.1:n.*836A>C
ENST00000692830.1:c.*844A>C ENSP00000509461.1:n.*844A>C
ENST00000693069.1:c.1000A>C ENSP00000510072.1:p.Lys334Gln
ENST00000693312.1:c.874A>C ENSP00000508686.1:p.Lys292Gln
ENST00000693664.1:c.1099A>C ENSP00000509614.1:p.Lys367Gln
ENST00000693705.1:c.*776A>C ENSP00000510697.1:n.*776A>C
XM_005265355.1:c.1099A>C XP_005265412.1:p.Lys367Gln
XM_005265357.1:c.1000A>C XP_005265414.1:p.Lys334Gln
XM_005265358.3:c.856A>C XP_005265415.1:p.Lys286Gln
XM_005265359.3:c.757A>C XP_005265416.1:p.Lys253Gln
XM_005265360.1:c.1099A>C XP_005265417.1:p.Lys367Gln
XM_011533974.1:c.1099A>C XP_011532276.1:p.Lys367Gln
XM_011533974.3:c.1099A>C XP_011532276.1:p.Lys367Gln
XM_011533975.1:c.856A>C XP_011532277.1:p.Lys286Gln
XM_017006966.1:c.1000A>C XP_016862455.1:p.Lys334Gln
XR_001740227.1:n.1331A>C