Canonical Allele Identifier: CA2664507078

Linked Data

gnomAD v4: 3-12585569-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585569G>C , CM000665.2:g.12585569G>C GRCh38
NC_000003.11:g.12627068G>C , CM000665.1:g.12627068G>C GRCh37
NC_000003.10:g.12602068G>C NCBI36
NG_007467.1:g.83611C>G , LRG_413:g.83611C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000423275.6:c.*1201+112C>G (RAF1) ENSP00000401088.1:n.*1201+112C>G
ENST00000432427.3:c.853+112C>G (RAF1)
ENST00000460610.2:n.5393C>G (RAF1)
ENST00000471449.2:n.346+112C>G (RAF1)
ENST00000475353.2:n.3361C>G (RAF1)
ENST00000684903.1:c.*1213+112C>G (RAF1) ENSP00000508612.1:n.*1213+112C>G
ENST00000685348.1:c.*1095-163C>G (RAF1) ENSP00000510285.1:n.*1095-163C>G
ENST00000685437.1:c.1437+112C>G (RAF1) ENSP00000508794.1:n.1437+112C>G
ENST00000685653.1:c.1536+112C>G (RAF1) ENSP00000509968.1:n.1536+112C>G
ENST00000685697.1:n.2271+112C>G (RAF1)
ENST00000685738.1:c.*500+112C>G (RAF1) ENSP00000510156.1:n.*500+112C>G
ENST00000686409.1:n.4490C>G (RAF1)
ENST00000686455.1:n.3802C>G (RAF1)
ENST00000686762.1:c.*95+112C>G (RAF1) ENSP00000509767.1:n.*95+112C>G
ENST00000687257.1:n.3675C>G (RAF1)
ENST00000687326.1:c.*2373C>G (RAF1) ENSP00000509665.1:n.*2373C>G
ENST00000687505.1:n.1654+112C>G (RAF1)
ENST00000687923.1:c.1425+112C>G (RAF1) ENSP00000510255.1:n.1425+112C>G
ENST00000688269.1:n.2132+112C>G (RAF1)
ENST00000688444.1:n.3653+112C>G (RAF1)
ENST00000688543.1:c.1437+112C>G (RAF1) ENSP00000509612.1:n.1437+112C>G
ENST00000688625.1:c.*2905+112C>G (RAF1) ENSP00000509522.1:n.*2905+112C>G
ENST00000688803.1:n.2965-316C>G (RAF1)
ENST00000688914.1:n.634C>G (RAF1)
ENST00000689097.1:c.*1213+112C>G (RAF1) ENSP00000509756.1:n.*1213+112C>G
ENST00000689389.1:c.1359+112C>G (RAF1) ENSP00000510213.1:n.1359+112C>G
ENST00000689418.1:c.*3116C>G (RAF1) ENSP00000509467.1:n.*3116C>G
ENST00000689540.1:n.3589C>G (RAF1)
ENST00000689876.1:c.1418-163C>G (RAF1) ENSP00000508535.1:n.1418-163C>G
ENST00000689914.1:c.*470+112C>G (RAF1) ENSP00000509847.1:n.*470+112C>G
ENST00000690397.1:c.1425+112C>G (RAF1) ENSP00000508730.1:n.1425+112C>G
ENST00000690460.1:c.1524+112C>G (RAF1) ENSP00000509106.1:n.1524+112C>G
ENST00000690585.1:c.263-316C>G (RAF1)
ENST00000690625.1:n.2572+112C>G (RAF1)
ENST00000691396.1:c.*1408+112C>G (RAF1) ENSP00000510712.1:n.*1408+112C>G
ENST00000691643.1:n.2274C>G (RAF1)
ENST00000691724.1:c.*493+112C>G (RAF1) ENSP00000509255.1:n.*493+112C>G
ENST00000691779.1:c.*1114+112C>G (RAF1) ENSP00000508592.1:n.*1114+112C>G
ENST00000691888.1:c.410+112C>G (RAF1)
ENST00000691899.1:c.1536+112C>G (RAF1) ENSP00000508763.1:n.1536+112C>G
ENST00000692069.1:n.4005C>G (RAF1)
ENST00000692093.1:c.1437+112C>G (RAF1) ENSP00000509669.1:n.1437+112C>G
ENST00000692311.1:n.2360+112C>G (RAF1)
ENST00000692558.1:n.3804C>G (RAF1)
ENST00000692773.1:c.*1273+112C>G (RAF1) ENSP00000509055.1:n.*1273+112C>G
ENST00000692830.1:c.*1281+112C>G (RAF1) ENSP00000509461.1:n.*1281+112C>G
ENST00000693312.1:c.1311+112C>G (RAF1) ENSP00000508686.1:n.1311+112C>G
ENST00000693664.1:c.1488-316C>G (RAF1) ENSP00000509614.1:n.1488-316C>G
ENST00000693705.1:c.*1048-588C>G (RAF1) ENSP00000510697.1:n.*1048-588C>G
ENST00000251849.9:c.1536+112C>G (RAF1) MANE Select ENSP00000251849.4:n.1536+112C>G
ENST00000442415.7:c.1596+112C>G (RAF1) ENSP00000401888.2:n.1596+112C>G
ENST00000676541.1:c.*3316G>C (MKRN2) ENSP00000503730.1:n.*3316G>C
ENST00000677142.1:c.*3316G>C (MKRN2) ENSP00000504455.1:n.*3316G>C
ENST00000677816.1:c.*1871G>C (MKRN2) ENSP00000502893.1:n.*1871G>C
ENST00000677941.1:n.3379G>C (MKRN2)
ENST00000251849.8:c.1536+112C>G (RAF1) ENSP00000251849.4:n.1536+112C>G
ENST00000423275.5:c.*1213+112C>G (RAF1) ENSP00000401088.1:n.*1213+112C>G
ENST00000432427.2:c.1173+112C>G (RAF1) ENSP00000398591.2:n.1173+112C>G
ENST00000442415.6:c.1596+112C>G (RAF1) ENSP00000401888.2:n.1596+112C>G
ENST00000471449.1:n.225+112C>G (RAF1)
NM_002880.3:c.1536+112C>G , LRG_413t1:c.1536+112C>G (RAF1) NP_002871.1:n.1536+112C>G
XM_005265355.1:c.1536+112C>G (RAF1) XP_005265412.1:n.1536+112C>G
XM_005265357.1:c.1437+112C>G (RAF1) XP_005265414.1:n.1437+112C>G
XM_005265358.3:c.1293+112C>G (RAF1) XP_005265415.1:n.1293+112C>G
XM_005265359.3:c.1194+112C>G (RAF1) XP_005265416.1:n.1194+112C>G
XM_005265360.1:c.1418-163C>G (RAF1) XP_005265417.1:n.1418-163C>G
XM_011533974.1:c.1536+112C>G (RAF1) XP_011532276.1:n.1536+112C>G
XM_011533975.1:c.1293+112C>G (RAF1) XP_011532277.1:n.1293+112C>G
NM_001354689.1:c.1596+112C>G (RAF1) NP_001341618.1:n.1596+112C>G
NM_001354690.1:c.1536+112C>G (RAF1) NP_001341619.1:n.1536+112C>G
NM_001354691.1:c.1293+112C>G (RAF1) NP_001341620.1:n.1293+112C>G
NM_001354692.1:c.1293+112C>G (RAF1) NP_001341621.1:n.1293+112C>G
NM_001354693.1:c.1437+112C>G (RAF1) NP_001341622.1:n.1437+112C>G
NM_001354694.1:c.1353+112C>G (RAF1) NP_001341623.1:n.1353+112C>G
NM_001354695.1:c.1194+112C>G (RAF1) NP_001341624.1:n.1194+112C>G
NR_148940.1:n.2064+112C>G (RAF1)
NR_148941.1:n.2010+112C>G (RAF1)
NR_148942.1:n.1949+112C>G (RAF1)
XM_011533974.3:c.1536+112C>G (RAF1) XP_011532276.1:n.1536+112C>G
XM_017006966.1:c.1437+112C>G (RAF1) XP_016862455.1:n.1437+112C>G
NM_001354689.3:c.1596+112C>G (RAF1) NP_001341618.1:n.1596+112C>G
NM_001354690.2:c.1536+112C>G (RAF1) NP_001341619.1:n.1536+112C>G
NM_001354691.2:c.1293+112C>G (RAF1) NP_001341620.1:n.1293+112C>G
NM_001354692.2:c.1293+112C>G (RAF1) NP_001341621.1:n.1293+112C>G
NM_001354693.2:c.1437+112C>G (RAF1) NP_001341622.1:n.1437+112C>G
NM_001354694.2:c.1353+112C>G (RAF1) NP_001341623.1:n.1353+112C>G
NM_001354695.2:c.1194+112C>G (RAF1) NP_001341624.1:n.1194+112C>G
NR_148940.2:n.1980+112C>G (RAF1)
NR_148941.2:n.1926+112C>G (RAF1)
NR_148942.2:n.1865+112C>G (RAF1)
NM_001354690.3:c.1536+112C>G (RAF1) NP_001341619.1:n.1536+112C>G
NM_001354691.3:c.1293+112C>G (RAF1) NP_001341620.1:n.1293+112C>G
NM_001354692.3:c.1293+112C>G (RAF1) NP_001341621.1:n.1293+112C>G
NM_001354693.3:c.1437+112C>G (RAF1) NP_001341622.1:n.1437+112C>G
NM_001354694.3:c.1353+112C>G (RAF1) NP_001341623.1:n.1353+112C>G
NM_001354695.3:c.1194+112C>G (RAF1) NP_001341624.1:n.1194+112C>G
NM_002880.4:c.1536+112C>G (RAF1) MANE Select NP_002871.1:n.1536+112C>G
NR_148940.3:n.1980+112C>G (RAF1)
NR_148941.3:n.1926+112C>G (RAF1)
NR_148942.3:n.1865+112C>G (RAF1)