Canonical Allele Identifier: CA2664507070

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12585562-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585562A>G , CM000665.2:g.12585562A>G	GRCh38
NC_000003.11:g.12627061A>G , CM000665.1:g.12627061A>G	GRCh37
NC_000003.10:g.12602061A>G	NCBI36
NG_007467.1:g.83618T>C , LRG_413:g.83618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1201+119T>C (RAF1)	ENSP00000401088.1:n.*1201+119T>C
ENST00000432427.3:c.853+119T>C (RAF1)
ENST00000460610.2:n.5400T>C (RAF1)
ENST00000471449.2:n.346+119T>C (RAF1)
ENST00000475353.2:n.3368T>C (RAF1)
ENST00000684903.1:c.*1213+119T>C (RAF1)	ENSP00000508612.1:n.*1213+119T>C
ENST00000685348.1:c.*1095-156T>C (RAF1)	ENSP00000510285.1:n.*1095-156T>C
ENST00000685437.1:c.1437+119T>C (RAF1)	ENSP00000508794.1:n.1437+119T>C
ENST00000685653.1:c.1536+119T>C (RAF1)	ENSP00000509968.1:n.1536+119T>C
ENST00000685697.1:n.2271+119T>C (RAF1)
ENST00000685738.1:c.*500+119T>C (RAF1)	ENSP00000510156.1:n.*500+119T>C
ENST00000686409.1:n.4497T>C (RAF1)
ENST00000686455.1:n.3809T>C (RAF1)
ENST00000686762.1:c.*95+119T>C (RAF1)	ENSP00000509767.1:n.*95+119T>C
ENST00000687257.1:n.3682T>C (RAF1)
ENST00000687326.1:c.*2380T>C (RAF1)	ENSP00000509665.1:n.*2380T>C
ENST00000687505.1:n.1654+119T>C (RAF1)
ENST00000687923.1:c.1425+119T>C (RAF1)	ENSP00000510255.1:n.1425+119T>C
ENST00000688269.1:n.2132+119T>C (RAF1)
ENST00000688444.1:n.3653+119T>C (RAF1)
ENST00000688543.1:c.1437+119T>C (RAF1)	ENSP00000509612.1:n.1437+119T>C
ENST00000688625.1:c.*2905+119T>C (RAF1)	ENSP00000509522.1:n.*2905+119T>C
ENST00000688803.1:n.2965-309T>C (RAF1)
ENST00000688914.1:n.641T>C (RAF1)
ENST00000689097.1:c.*1213+119T>C (RAF1)	ENSP00000509756.1:n.*1213+119T>C
ENST00000689389.1:c.1359+119T>C (RAF1)	ENSP00000510213.1:n.1359+119T>C
ENST00000689418.1:c.*3123T>C (RAF1)	ENSP00000509467.1:n.*3123T>C
ENST00000689540.1:n.3596T>C (RAF1)
ENST00000689876.1:c.1418-156T>C (RAF1)	ENSP00000508535.1:n.1418-156T>C
ENST00000689914.1:c.*470+119T>C (RAF1)	ENSP00000509847.1:n.*470+119T>C
ENST00000690397.1:c.1425+119T>C (RAF1)	ENSP00000508730.1:n.1425+119T>C
ENST00000690460.1:c.1524+119T>C (RAF1)	ENSP00000509106.1:n.1524+119T>C
ENST00000690585.1:c.263-309T>C (RAF1)
ENST00000690625.1:n.2572+119T>C (RAF1)
ENST00000691396.1:c.*1408+119T>C (RAF1)	ENSP00000510712.1:n.*1408+119T>C
ENST00000691643.1:n.2281T>C (RAF1)
ENST00000691724.1:c.*493+119T>C (RAF1)	ENSP00000509255.1:n.*493+119T>C
ENST00000691779.1:c.*1114+119T>C (RAF1)	ENSP00000508592.1:n.*1114+119T>C
ENST00000691888.1:c.410+119T>C (RAF1)
ENST00000691899.1:c.1536+119T>C (RAF1)	ENSP00000508763.1:n.1536+119T>C
ENST00000692069.1:n.4012T>C (RAF1)
ENST00000692093.1:c.1437+119T>C (RAF1)	ENSP00000509669.1:n.1437+119T>C
ENST00000692311.1:n.2360+119T>C (RAF1)
ENST00000692558.1:n.3811T>C (RAF1)
ENST00000692773.1:c.*1273+119T>C (RAF1)	ENSP00000509055.1:n.*1273+119T>C
ENST00000692830.1:c.*1281+119T>C (RAF1)	ENSP00000509461.1:n.*1281+119T>C
ENST00000693312.1:c.1311+119T>C (RAF1)	ENSP00000508686.1:n.1311+119T>C
ENST00000693664.1:c.1488-309T>C (RAF1)	ENSP00000509614.1:n.1488-309T>C
ENST00000693705.1:c.*1048-581T>C (RAF1)	ENSP00000510697.1:n.*1048-581T>C
ENST00000251849.9:c.1536+119T>C (RAF1) MANE Select	ENSP00000251849.4:n.1536+119T>C
ENST00000442415.7:c.1596+119T>C (RAF1)	ENSP00000401888.2:n.1596+119T>C
ENST00000676541.1:c.*3309A>G (MKRN2)	ENSP00000503730.1:n.*3309A>G
ENST00000677142.1:c.*3309A>G (MKRN2)	ENSP00000504455.1:n.*3309A>G
ENST00000677816.1:c.*1864A>G (MKRN2)	ENSP00000502893.1:n.*1864A>G
ENST00000677941.1:n.3372A>G (MKRN2)
ENST00000251849.8:c.1536+119T>C (RAF1)	ENSP00000251849.4:n.1536+119T>C
ENST00000423275.5:c.*1213+119T>C (RAF1)	ENSP00000401088.1:n.*1213+119T>C
ENST00000432427.2:c.1173+119T>C (RAF1)	ENSP00000398591.2:n.1173+119T>C
ENST00000442415.6:c.1596+119T>C (RAF1)	ENSP00000401888.2:n.1596+119T>C
ENST00000471449.1:n.225+119T>C (RAF1)
NM_002880.3:c.1536+119T>C , LRG_413t1:c.1536+119T>C (RAF1)	NP_002871.1:n.1536+119T>C
XM_005265355.1:c.1536+119T>C (RAF1)	XP_005265412.1:n.1536+119T>C
XM_005265357.1:c.1437+119T>C (RAF1)	XP_005265414.1:n.1437+119T>C
XM_005265358.3:c.1293+119T>C (RAF1)	XP_005265415.1:n.1293+119T>C
XM_005265359.3:c.1194+119T>C (RAF1)	XP_005265416.1:n.1194+119T>C
XM_005265360.1:c.1418-156T>C (RAF1)	XP_005265417.1:n.1418-156T>C
XM_011533974.1:c.1536+119T>C (RAF1)	XP_011532276.1:n.1536+119T>C
XM_011533975.1:c.1293+119T>C (RAF1)	XP_011532277.1:n.1293+119T>C
NM_001354689.1:c.1596+119T>C (RAF1)	NP_001341618.1:n.1596+119T>C
NM_001354690.1:c.1536+119T>C (RAF1)	NP_001341619.1:n.1536+119T>C
NM_001354691.1:c.1293+119T>C (RAF1)	NP_001341620.1:n.1293+119T>C
NM_001354692.1:c.1293+119T>C (RAF1)	NP_001341621.1:n.1293+119T>C
NM_001354693.1:c.1437+119T>C (RAF1)	NP_001341622.1:n.1437+119T>C
NM_001354694.1:c.1353+119T>C (RAF1)	NP_001341623.1:n.1353+119T>C
NM_001354695.1:c.1194+119T>C (RAF1)	NP_001341624.1:n.1194+119T>C
NR_148940.1:n.2064+119T>C (RAF1)
NR_148941.1:n.2010+119T>C (RAF1)
NR_148942.1:n.1949+119T>C (RAF1)
XM_011533974.3:c.1536+119T>C (RAF1)	XP_011532276.1:n.1536+119T>C
XM_017006966.1:c.1437+119T>C (RAF1)	XP_016862455.1:n.1437+119T>C
NM_001354689.3:c.1596+119T>C (RAF1)	NP_001341618.1:n.1596+119T>C
NM_001354690.2:c.1536+119T>C (RAF1)	NP_001341619.1:n.1536+119T>C
NM_001354691.2:c.1293+119T>C (RAF1)	NP_001341620.1:n.1293+119T>C
NM_001354692.2:c.1293+119T>C (RAF1)	NP_001341621.1:n.1293+119T>C
NM_001354693.2:c.1437+119T>C (RAF1)	NP_001341622.1:n.1437+119T>C
NM_001354694.2:c.1353+119T>C (RAF1)	NP_001341623.1:n.1353+119T>C
NM_001354695.2:c.1194+119T>C (RAF1)	NP_001341624.1:n.1194+119T>C
NR_148940.2:n.1980+119T>C (RAF1)
NR_148941.2:n.1926+119T>C (RAF1)
NR_148942.2:n.1865+119T>C (RAF1)
NM_001354690.3:c.1536+119T>C (RAF1)	NP_001341619.1:n.1536+119T>C
NM_001354691.3:c.1293+119T>C (RAF1)	NP_001341620.1:n.1293+119T>C
NM_001354692.3:c.1293+119T>C (RAF1)	NP_001341621.1:n.1293+119T>C
NM_001354693.3:c.1437+119T>C (RAF1)	NP_001341622.1:n.1437+119T>C
NM_001354694.3:c.1353+119T>C (RAF1)	NP_001341623.1:n.1353+119T>C
NM_001354695.3:c.1194+119T>C (RAF1)	NP_001341624.1:n.1194+119T>C
NM_002880.4:c.1536+119T>C (RAF1) MANE Select	NP_002871.1:n.1536+119T>C
NR_148940.3:n.1980+119T>C (RAF1)
NR_148941.3:n.1926+119T>C (RAF1)
NR_148942.3:n.1865+119T>C (RAF1)