Canonical Allele Identifier: CA351496814

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584930-A-G
• MyVariant Identifiers: chr3:g.12626429A>G (hg19) ; chr3:g.12584930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584930A>G , CM000665.2:g.12584930A>G	GRCh38
NC_000003.11:g.12626429A>G , CM000665.1:g.12626429A>G	GRCh37
NC_000003.10:g.12601429A>G	NCBI36
NG_007467.1:g.84250T>C , LRG_413:g.84250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1385T>C (RAF1)	ENSP00000401088.1:n.*1385T>C
ENST00000432427.3:c.1037T>C (RAF1)
ENST00000460610.2:n.6032T>C (RAF1)
ENST00000471449.2:n.530T>C (RAF1)
ENST00000475353.2:n.4000T>C (RAF1)
ENST00000684903.1:c.*1397T>C (RAF1)	ENSP00000508612.1:n.*1397T>C
ENST00000685348.1:c.*1431T>C (RAF1)	ENSP00000510285.1:n.*1431T>C
ENST00000685437.1:c.1621T>C (RAF1)	ENSP00000508794.1:p.Tyr541His
ENST00000685653.1:c.1720T>C (RAF1)	ENSP00000509968.1:p.Tyr574His
ENST00000685697.1:n.2455T>C (RAF1)
ENST00000685738.1:c.*684T>C (RAF1)	ENSP00000510156.1:n.*684T>C
ENST00000686409.1:n.5129T>C (RAF1)
ENST00000686455.1:n.4441T>C (RAF1)
ENST00000686762.1:c.*279T>C (RAF1)	ENSP00000509767.1:n.*279T>C
ENST00000687257.1:n.4174T>C (RAF1)
ENST00000687326.1:c.*3012T>C (RAF1)	ENSP00000509665.1:n.*3012T>C
ENST00000687505.1:n.1838T>C (RAF1)
ENST00000687923.1:c.1609T>C (RAF1)	ENSP00000510255.1:p.Tyr537His
ENST00000688269.1:n.2316T>C (RAF1)
ENST00000688444.1:n.3837T>C (RAF1)
ENST00000688543.1:c.1621T>C (RAF1)	ENSP00000509612.1:p.Tyr541His
ENST00000688625.1:c.*3089T>C (RAF1)	ENSP00000509522.1:n.*3089T>C
ENST00000688803.1:n.3148T>C (RAF1)
ENST00000688914.1:n.1133T>C (RAF1)
ENST00000689097.1:c.*1397T>C (RAF1)	ENSP00000509756.1:n.*1397T>C
ENST00000689389.1:c.1543T>C (RAF1)	ENSP00000510213.1:p.Tyr515His
ENST00000689418.1:c.*3615T>C (RAF1)	ENSP00000509467.1:n.*3615T>C
ENST00000689540.1:n.4088T>C (RAF1)
ENST00000689876.1:c.*269T>C (RAF1)	ENSP00000508535.1:n.*269T>C
ENST00000689914.1:c.*654T>C (RAF1)	ENSP00000509847.1:n.*654T>C
ENST00000690397.1:c.1609T>C (RAF1)	ENSP00000508730.1:p.Tyr537His
ENST00000690460.1:c.1708T>C (RAF1)	ENSP00000509106.1:p.Tyr570His
ENST00000690585.1:c.446T>C (RAF1)
ENST00000690625.1:n.2756T>C (RAF1)
ENST00000691396.1:c.*1592T>C (RAF1)	ENSP00000510712.1:n.*1592T>C
ENST00000691643.1:n.2773T>C (RAF1)
ENST00000691724.1:c.*677T>C (RAF1)	ENSP00000509255.1:n.*677T>C
ENST00000691779.1:c.*1298T>C (RAF1)	ENSP00000508592.1:n.*1298T>C
ENST00000691888.1:c.594T>C (RAF1)
ENST00000691899.1:c.1720T>C (RAF1)	ENSP00000508763.1:p.Tyr574His
ENST00000692069.1:n.4644T>C (RAF1)
ENST00000692093.1:c.1621T>C (RAF1)	ENSP00000509669.1:p.Tyr541His
ENST00000692311.1:n.2544T>C (RAF1)
ENST00000692558.1:n.4303T>C (RAF1)
ENST00000692773.1:c.*1457T>C (RAF1)	ENSP00000509055.1:n.*1457T>C
ENST00000692830.1:c.*1465T>C (RAF1)	ENSP00000509461.1:n.*1465T>C
ENST00000693312.1:c.1495T>C (RAF1)	ENSP00000508686.1:p.Tyr499His
ENST00000693664.1:c.*171T>C (RAF1)	ENSP00000509614.1:n.*171T>C
ENST00000693705.1:c.*1099T>C (RAF1)	ENSP00000510697.1:n.*1099T>C
ENST00000251849.9:c.1720T>C (RAF1) MANE Select	ENSP00000251849.4:p.Tyr574His
ENST00000442415.7:c.1780T>C (RAF1)	ENSP00000401888.2:p.Tyr594His
ENST00000676541.1:c.*2677A>G (MKRN2)	ENSP00000503730.1:n.*2677A>G
ENST00000677142.1:c.*2677A>G (MKRN2)	ENSP00000504455.1:n.*2677A>G
ENST00000677816.1:c.*1232A>G (MKRN2)	ENSP00000502893.1:n.*1232A>G
ENST00000677941.1:n.2740A>G (MKRN2)
ENST00000251849.8:c.1720T>C (RAF1)	ENSP00000251849.4:p.Tyr574His
ENST00000423275.5:c.*1397T>C (RAF1)	ENSP00000401088.1:n.*1397T>C
ENST00000432427.2:c.1357T>C (RAF1)	ENSP00000398591.2:p.Tyr453His
ENST00000442415.6:c.1780T>C (RAF1)	ENSP00000401888.2:p.Tyr594His
ENST00000471449.1:n.409T>C (RAF1)
NM_002880.3:c.1720T>C , LRG_413t1:c.1720T>C (RAF1)	NP_002871.1:p.Tyr574His
XM_005265355.1:c.1720T>C (RAF1)	XP_005265412.1:p.Tyr574His
XM_005265357.1:c.1621T>C (RAF1)	XP_005265414.1:p.Tyr541His
XM_005265358.3:c.1477T>C (RAF1)	XP_005265415.1:p.Tyr493His
XM_005265359.3:c.1378T>C (RAF1)	XP_005265416.1:p.Tyr460His
XM_011533974.1:c.1720T>C (RAF1)	XP_011532276.1:p.Tyr574His
XM_011533975.1:c.1477T>C (RAF1)	XP_011532277.1:p.Tyr493His
NM_001354689.1:c.1780T>C (RAF1)	NP_001341618.1:p.Tyr594His
NM_001354690.1:c.1720T>C (RAF1)	NP_001341619.1:p.Tyr574His
NM_001354691.1:c.1477T>C (RAF1)	NP_001341620.1:p.Tyr493His
NM_001354692.1:c.1477T>C (RAF1)	NP_001341621.1:p.Tyr493His
NM_001354693.1:c.1621T>C (RAF1)	NP_001341622.1:p.Tyr541His
NM_001354694.1:c.1537T>C (RAF1)	NP_001341623.1:p.Tyr513His
NM_001354695.1:c.1378T>C (RAF1)	NP_001341624.1:p.Tyr460His
NR_148940.1:n.2248T>C (RAF1)
NR_148941.1:n.2194T>C (RAF1)
NR_148942.1:n.2133T>C (RAF1)
XM_011533974.3:c.1720T>C (RAF1)	XP_011532276.1:p.Tyr574His
XM_017006966.1:c.1621T>C (RAF1)	XP_016862455.1:p.Tyr541His
NM_001354689.3:c.1780T>C (RAF1)	NP_001341618.1:p.Tyr594His
NM_001354690.2:c.1720T>C (RAF1)	NP_001341619.1:p.Tyr574His
NM_001354691.2:c.1477T>C (RAF1)	NP_001341620.1:p.Tyr493His
NM_001354692.2:c.1477T>C (RAF1)	NP_001341621.1:p.Tyr493His
NM_001354693.2:c.1621T>C (RAF1)	NP_001341622.1:p.Tyr541His
NM_001354694.2:c.1537T>C (RAF1)	NP_001341623.1:p.Tyr513His
NM_001354695.2:c.1378T>C (RAF1)	NP_001341624.1:p.Tyr460His
NR_148940.2:n.2164T>C (RAF1)
NR_148941.2:n.2110T>C (RAF1)
NR_148942.2:n.2049T>C (RAF1)
NM_001354690.3:c.1720T>C (RAF1)	NP_001341619.1:p.Tyr574His
NM_001354691.3:c.1477T>C (RAF1)	NP_001341620.1:p.Tyr493His
NM_001354692.3:c.1477T>C (RAF1)	NP_001341621.1:p.Tyr493His
NM_001354693.3:c.1621T>C (RAF1)	NP_001341622.1:p.Tyr541His
NM_001354694.3:c.1537T>C (RAF1)	NP_001341623.1:p.Tyr513His
NM_001354695.3:c.1378T>C (RAF1)	NP_001341624.1:p.Tyr460His
NM_002880.4:c.1720T>C (RAF1) MANE Select	NP_002871.1:p.Tyr574His
NR_148940.3:n.2164T>C (RAF1)
NR_148941.3:n.2110T>C (RAF1)
NR_148942.3:n.2049T>C (RAF1)