Canonical Allele Identifier: CA351496647

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584893-G-A
• MyVariant Identifiers: chr3:g.12626392G>A (hg19) ; chr3:g.12584893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584893G>A , CM000665.2:g.12584893G>A	GRCh38
NC_000003.11:g.12626392G>A , CM000665.1:g.12626392G>A	GRCh37
NC_000003.10:g.12601392G>A	NCBI36
NG_007467.1:g.84287C>T , LRG_413:g.84287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1422C>T (RAF1)	ENSP00000401088.1:n.*1422C>T
ENST00000432427.3:c.1074C>T (RAF1)
ENST00000460610.2:n.6069C>T (RAF1)
ENST00000471449.2:n.567C>T (RAF1)
ENST00000475353.2:n.4037C>T (RAF1)
ENST00000684903.1:c.*1434C>T (RAF1)	ENSP00000508612.1:n.*1434C>T
ENST00000685348.1:c.*1468C>T (RAF1)	ENSP00000510285.1:n.*1468C>T
ENST00000685437.1:c.1658C>T (RAF1)	ENSP00000508794.1:p.Ala553Val
ENST00000685653.1:c.1757C>T (RAF1)	ENSP00000509968.1:p.Ala586Val
ENST00000685697.1:n.2492C>T (RAF1)
ENST00000685738.1:c.*721C>T (RAF1)	ENSP00000510156.1:n.*721C>T
ENST00000686409.1:n.5166C>T (RAF1)
ENST00000686455.1:n.4478C>T (RAF1)
ENST00000686762.1:c.*316C>T (RAF1)	ENSP00000509767.1:n.*316C>T
ENST00000687257.1:n.4211C>T (RAF1)
ENST00000687326.1:c.*3049C>T (RAF1)	ENSP00000509665.1:n.*3049C>T
ENST00000687505.1:n.1875C>T (RAF1)
ENST00000687923.1:c.1646C>T (RAF1)	ENSP00000510255.1:p.Ala549Val
ENST00000688269.1:n.2353C>T (RAF1)
ENST00000688444.1:n.3874C>T (RAF1)
ENST00000688543.1:c.1658C>T (RAF1)	ENSP00000509612.1:p.Ala553Val
ENST00000688625.1:c.*3126C>T (RAF1)	ENSP00000509522.1:n.*3126C>T
ENST00000688803.1:n.3185C>T (RAF1)
ENST00000688914.1:n.1170C>T (RAF1)
ENST00000689097.1:c.*1434C>T (RAF1)	ENSP00000509756.1:n.*1434C>T
ENST00000689389.1:c.1580C>T (RAF1)	ENSP00000510213.1:p.Ala527Val
ENST00000689418.1:c.*3652C>T (RAF1)	ENSP00000509467.1:n.*3652C>T
ENST00000689540.1:n.4125C>T (RAF1)
ENST00000689876.1:c.*306C>T (RAF1)	ENSP00000508535.1:n.*306C>T
ENST00000689914.1:c.*691C>T (RAF1)	ENSP00000509847.1:n.*691C>T
ENST00000690397.1:c.1646C>T (RAF1)	ENSP00000508730.1:p.Ala549Val
ENST00000690460.1:c.1745C>T (RAF1)	ENSP00000509106.1:p.Ala582Val
ENST00000690585.1:c.483C>T (RAF1)
ENST00000690625.1:n.2793C>T (RAF1)
ENST00000691396.1:c.*1629C>T (RAF1)	ENSP00000510712.1:n.*1629C>T
ENST00000691643.1:n.2810C>T (RAF1)
ENST00000691724.1:c.*714C>T (RAF1)	ENSP00000509255.1:n.*714C>T
ENST00000691779.1:c.*1335C>T (RAF1)	ENSP00000508592.1:n.*1335C>T
ENST00000691888.1:c.631C>T (RAF1)
ENST00000691899.1:c.1757C>T (RAF1)	ENSP00000508763.1:p.Ala586Val
ENST00000692069.1:n.4681C>T (RAF1)
ENST00000692093.1:c.1658C>T (RAF1)	ENSP00000509669.1:p.Ala553Val
ENST00000692311.1:n.2581C>T (RAF1)
ENST00000692558.1:n.4340C>T (RAF1)
ENST00000692773.1:c.*1494C>T (RAF1)	ENSP00000509055.1:n.*1494C>T
ENST00000692830.1:c.*1502C>T (RAF1)	ENSP00000509461.1:n.*1502C>T
ENST00000693312.1:c.1532C>T (RAF1)	ENSP00000508686.1:p.Ala511Val
ENST00000693664.1:c.*208C>T (RAF1)	ENSP00000509614.1:n.*208C>T
ENST00000693705.1:c.*1136C>T (RAF1)	ENSP00000510697.1:n.*1136C>T
ENST00000251849.9:c.1757C>T (RAF1) MANE Select	ENSP00000251849.4:p.Ala586Val
ENST00000442415.7:c.1817C>T (RAF1)	ENSP00000401888.2:p.Ala606Val
ENST00000676541.1:c.*2640G>A (MKRN2)	ENSP00000503730.1:n.*2640G>A
ENST00000677142.1:c.*2640G>A (MKRN2)	ENSP00000504455.1:n.*2640G>A
ENST00000677816.1:c.*1195G>A (MKRN2)	ENSP00000502893.1:n.*1195G>A
ENST00000677941.1:n.2703G>A (MKRN2)
ENST00000251849.8:c.1757C>T (RAF1)	ENSP00000251849.4:p.Ala586Val
ENST00000423275.5:c.*1434C>T (RAF1)	ENSP00000401088.1:n.*1434C>T
ENST00000432427.2:c.1394C>T (RAF1)	ENSP00000398591.2:p.Ala465Val
ENST00000442415.6:c.1817C>T (RAF1)	ENSP00000401888.2:p.Ala606Val
ENST00000471449.1:n.446C>T (RAF1)
NM_002880.3:c.1757C>T , LRG_413t1:c.1757C>T (RAF1)	NP_002871.1:p.Ala586Val
XM_005265355.1:c.1757C>T (RAF1)	XP_005265412.1:p.Ala586Val
XM_005265357.1:c.1658C>T (RAF1)	XP_005265414.1:p.Ala553Val
XM_005265358.3:c.1514C>T (RAF1)	XP_005265415.1:p.Ala505Val
XM_005265359.3:c.1415C>T (RAF1)	XP_005265416.1:p.Ala472Val
XM_011533974.1:c.1757C>T (RAF1)	XP_011532276.1:p.Ala586Val
XM_011533975.1:c.1514C>T (RAF1)	XP_011532277.1:p.Ala505Val
NM_001354689.1:c.1817C>T (RAF1)	NP_001341618.1:p.Ala606Val
NM_001354690.1:c.1757C>T (RAF1)	NP_001341619.1:p.Ala586Val
NM_001354691.1:c.1514C>T (RAF1)	NP_001341620.1:p.Ala505Val
NM_001354692.1:c.1514C>T (RAF1)	NP_001341621.1:p.Ala505Val
NM_001354693.1:c.1658C>T (RAF1)	NP_001341622.1:p.Ala553Val
NM_001354694.1:c.1574C>T (RAF1)	NP_001341623.1:p.Ala525Val
NM_001354695.1:c.1415C>T (RAF1)	NP_001341624.1:p.Ala472Val
NR_148940.1:n.2285C>T (RAF1)
NR_148941.1:n.2231C>T (RAF1)
NR_148942.1:n.2170C>T (RAF1)
XM_011533974.3:c.1757C>T (RAF1)	XP_011532276.1:p.Ala586Val
XM_017006966.1:c.1658C>T (RAF1)	XP_016862455.1:p.Ala553Val
NM_001354689.3:c.1817C>T (RAF1)	NP_001341618.1:p.Ala606Val
NM_001354690.2:c.1757C>T (RAF1)	NP_001341619.1:p.Ala586Val
NM_001354691.2:c.1514C>T (RAF1)	NP_001341620.1:p.Ala505Val
NM_001354692.2:c.1514C>T (RAF1)	NP_001341621.1:p.Ala505Val
NM_001354693.2:c.1658C>T (RAF1)	NP_001341622.1:p.Ala553Val
NM_001354694.2:c.1574C>T (RAF1)	NP_001341623.1:p.Ala525Val
NM_001354695.2:c.1415C>T (RAF1)	NP_001341624.1:p.Ala472Val
NR_148940.2:n.2201C>T (RAF1)
NR_148941.2:n.2147C>T (RAF1)
NR_148942.2:n.2086C>T (RAF1)
NM_001354690.3:c.1757C>T (RAF1)	NP_001341619.1:p.Ala586Val
NM_001354691.3:c.1514C>T (RAF1)	NP_001341620.1:p.Ala505Val
NM_001354692.3:c.1514C>T (RAF1)	NP_001341621.1:p.Ala505Val
NM_001354693.3:c.1658C>T (RAF1)	NP_001341622.1:p.Ala553Val
NM_001354694.3:c.1574C>T (RAF1)	NP_001341623.1:p.Ala525Val
NM_001354695.3:c.1415C>T (RAF1)	NP_001341624.1:p.Ala472Val
NM_002880.4:c.1757C>T (RAF1) MANE Select	NP_002871.1:p.Ala586Val
NR_148940.3:n.2201C>T (RAF1)
NR_148941.3:n.2147C>T (RAF1)
NR_148942.3:n.2086C>T (RAF1)