Canonical Allele Identifier: CA2664507088

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12585582-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585582C>A , CM000665.2:g.12585582C>A	GRCh38
NC_000003.11:g.12627081C>A , CM000665.1:g.12627081C>A	GRCh37
NC_000003.10:g.12602081C>A	NCBI36
NG_007467.1:g.83598G>T , LRG_413:g.83598G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1201+99G>T (RAF1)	ENSP00000401088.1:n.*1201+99G>T
ENST00000432427.3:c.853+99G>T (RAF1)
ENST00000460610.2:n.5380G>T (RAF1)
ENST00000471449.2:n.346+99G>T (RAF1)
ENST00000475353.2:n.3348G>T (RAF1)
ENST00000684903.1:c.*1213+99G>T (RAF1)	ENSP00000508612.1:n.*1213+99G>T
ENST00000685348.1:c.*1095-176G>T (RAF1)	ENSP00000510285.1:n.*1095-176G>T
ENST00000685437.1:c.1437+99G>T (RAF1)	ENSP00000508794.1:n.1437+99G>T
ENST00000685653.1:c.1536+99G>T (RAF1)	ENSP00000509968.1:n.1536+99G>T
ENST00000685697.1:n.2271+99G>T (RAF1)
ENST00000685738.1:c.*500+99G>T (RAF1)	ENSP00000510156.1:n.*500+99G>T
ENST00000686409.1:n.4477G>T (RAF1)
ENST00000686455.1:n.3789G>T (RAF1)
ENST00000686762.1:c.*95+99G>T (RAF1)	ENSP00000509767.1:n.*95+99G>T
ENST00000687257.1:n.3662G>T (RAF1)
ENST00000687326.1:c.*2360G>T (RAF1)	ENSP00000509665.1:n.*2360G>T
ENST00000687505.1:n.1654+99G>T (RAF1)
ENST00000687923.1:c.1425+99G>T (RAF1)	ENSP00000510255.1:n.1425+99G>T
ENST00000688269.1:n.2132+99G>T (RAF1)
ENST00000688444.1:n.3653+99G>T (RAF1)
ENST00000688543.1:c.1437+99G>T (RAF1)	ENSP00000509612.1:n.1437+99G>T
ENST00000688625.1:c.*2905+99G>T (RAF1)	ENSP00000509522.1:n.*2905+99G>T
ENST00000688803.1:n.2965-329G>T (RAF1)
ENST00000688914.1:n.621G>T (RAF1)
ENST00000689097.1:c.*1213+99G>T (RAF1)	ENSP00000509756.1:n.*1213+99G>T
ENST00000689389.1:c.1359+99G>T (RAF1)	ENSP00000510213.1:n.1359+99G>T
ENST00000689418.1:c.*3103G>T (RAF1)	ENSP00000509467.1:n.*3103G>T
ENST00000689540.1:n.3576G>T (RAF1)
ENST00000689876.1:c.1418-176G>T (RAF1)	ENSP00000508535.1:n.1418-176G>T
ENST00000689914.1:c.*470+99G>T (RAF1)	ENSP00000509847.1:n.*470+99G>T
ENST00000690397.1:c.1425+99G>T (RAF1)	ENSP00000508730.1:n.1425+99G>T
ENST00000690460.1:c.1524+99G>T (RAF1)	ENSP00000509106.1:n.1524+99G>T
ENST00000690585.1:c.263-329G>T (RAF1)
ENST00000690625.1:n.2572+99G>T (RAF1)
ENST00000691396.1:c.*1408+99G>T (RAF1)	ENSP00000510712.1:n.*1408+99G>T
ENST00000691643.1:n.2261G>T (RAF1)
ENST00000691724.1:c.*493+99G>T (RAF1)	ENSP00000509255.1:n.*493+99G>T
ENST00000691779.1:c.*1114+99G>T (RAF1)	ENSP00000508592.1:n.*1114+99G>T
ENST00000691888.1:c.410+99G>T (RAF1)
ENST00000691899.1:c.1536+99G>T (RAF1)	ENSP00000508763.1:n.1536+99G>T
ENST00000692069.1:n.3992G>T (RAF1)
ENST00000692093.1:c.1437+99G>T (RAF1)	ENSP00000509669.1:n.1437+99G>T
ENST00000692311.1:n.2360+99G>T (RAF1)
ENST00000692558.1:n.3791G>T (RAF1)
ENST00000692773.1:c.*1273+99G>T (RAF1)	ENSP00000509055.1:n.*1273+99G>T
ENST00000692830.1:c.*1281+99G>T (RAF1)	ENSP00000509461.1:n.*1281+99G>T
ENST00000693312.1:c.1311+99G>T (RAF1)	ENSP00000508686.1:n.1311+99G>T
ENST00000693664.1:c.1488-329G>T (RAF1)	ENSP00000509614.1:n.1488-329G>T
ENST00000693705.1:c.*1048-601G>T (RAF1)	ENSP00000510697.1:n.*1048-601G>T
ENST00000251849.9:c.1536+99G>T (RAF1) MANE Select	ENSP00000251849.4:n.1536+99G>T
ENST00000442415.7:c.1596+99G>T (RAF1)	ENSP00000401888.2:n.1596+99G>T
ENST00000676541.1:c.*3329C>A (MKRN2)	ENSP00000503730.1:n.*3329C>A
ENST00000677142.1:c.*3329C>A (MKRN2)	ENSP00000504455.1:n.*3329C>A
ENST00000677816.1:c.*1884C>A (MKRN2)	ENSP00000502893.1:n.*1884C>A
ENST00000677941.1:n.3392C>A (MKRN2)
ENST00000251849.8:c.1536+99G>T (RAF1)	ENSP00000251849.4:n.1536+99G>T
ENST00000423275.5:c.*1213+99G>T (RAF1)	ENSP00000401088.1:n.*1213+99G>T
ENST00000432427.2:c.1173+99G>T (RAF1)	ENSP00000398591.2:n.1173+99G>T
ENST00000442415.6:c.1596+99G>T (RAF1)	ENSP00000401888.2:n.1596+99G>T
ENST00000471449.1:n.225+99G>T (RAF1)
NM_002880.3:c.1536+99G>T , LRG_413t1:c.1536+99G>T (RAF1)	NP_002871.1:n.1536+99G>T
XM_005265355.1:c.1536+99G>T (RAF1)	XP_005265412.1:n.1536+99G>T
XM_005265357.1:c.1437+99G>T (RAF1)	XP_005265414.1:n.1437+99G>T
XM_005265358.3:c.1293+99G>T (RAF1)	XP_005265415.1:n.1293+99G>T
XM_005265359.3:c.1194+99G>T (RAF1)	XP_005265416.1:n.1194+99G>T
XM_005265360.1:c.1418-176G>T (RAF1)	XP_005265417.1:n.1418-176G>T
XM_011533974.1:c.1536+99G>T (RAF1)	XP_011532276.1:n.1536+99G>T
XM_011533975.1:c.1293+99G>T (RAF1)	XP_011532277.1:n.1293+99G>T
NM_001354689.1:c.1596+99G>T (RAF1)	NP_001341618.1:n.1596+99G>T
NM_001354690.1:c.1536+99G>T (RAF1)	NP_001341619.1:n.1536+99G>T
NM_001354691.1:c.1293+99G>T (RAF1)	NP_001341620.1:n.1293+99G>T
NM_001354692.1:c.1293+99G>T (RAF1)	NP_001341621.1:n.1293+99G>T
NM_001354693.1:c.1437+99G>T (RAF1)	NP_001341622.1:n.1437+99G>T
NM_001354694.1:c.1353+99G>T (RAF1)	NP_001341623.1:n.1353+99G>T
NM_001354695.1:c.1194+99G>T (RAF1)	NP_001341624.1:n.1194+99G>T
NR_148940.1:n.2064+99G>T (RAF1)
NR_148941.1:n.2010+99G>T (RAF1)
NR_148942.1:n.1949+99G>T (RAF1)
XM_011533974.3:c.1536+99G>T (RAF1)	XP_011532276.1:n.1536+99G>T
XM_017006966.1:c.1437+99G>T (RAF1)	XP_016862455.1:n.1437+99G>T
NM_001354689.3:c.1596+99G>T (RAF1)	NP_001341618.1:n.1596+99G>T
NM_001354690.2:c.1536+99G>T (RAF1)	NP_001341619.1:n.1536+99G>T
NM_001354691.2:c.1293+99G>T (RAF1)	NP_001341620.1:n.1293+99G>T
NM_001354692.2:c.1293+99G>T (RAF1)	NP_001341621.1:n.1293+99G>T
NM_001354693.2:c.1437+99G>T (RAF1)	NP_001341622.1:n.1437+99G>T
NM_001354694.2:c.1353+99G>T (RAF1)	NP_001341623.1:n.1353+99G>T
NM_001354695.2:c.1194+99G>T (RAF1)	NP_001341624.1:n.1194+99G>T
NR_148940.2:n.1980+99G>T (RAF1)
NR_148941.2:n.1926+99G>T (RAF1)
NR_148942.2:n.1865+99G>T (RAF1)
NM_001354690.3:c.1536+99G>T (RAF1)	NP_001341619.1:n.1536+99G>T
NM_001354691.3:c.1293+99G>T (RAF1)	NP_001341620.1:n.1293+99G>T
NM_001354692.3:c.1293+99G>T (RAF1)	NP_001341621.1:n.1293+99G>T
NM_001354693.3:c.1437+99G>T (RAF1)	NP_001341622.1:n.1437+99G>T
NM_001354694.3:c.1353+99G>T (RAF1)	NP_001341623.1:n.1353+99G>T
NM_001354695.3:c.1194+99G>T (RAF1)	NP_001341624.1:n.1194+99G>T
NM_002880.4:c.1536+99G>T (RAF1) MANE Select	NP_002871.1:n.1536+99G>T
NR_148940.3:n.1980+99G>T (RAF1)
NR_148941.3:n.1926+99G>T (RAF1)
NR_148942.3:n.1865+99G>T (RAF1)