Canonical Allele Identifier: CA2259428

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 520297
• ClinVar RCV Id: RCV000618501
• dbSNP Id: rs750077934
• ExAC: 3:12626453 C / T
• gnomAD v2: 3-12626453-C-T
• gnomAD v4: 3-12584954-C-T
• MyVariant Identifiers: chr3:g.12626453C>T (hg19) ; chr3:g.12584954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584954C>T , CM000665.2:g.12584954C>T	GRCh38
NC_000003.11:g.12626453C>T , CM000665.1:g.12626453C>T	GRCh37
NC_000003.10:g.12601453C>T	NCBI36
NG_007467.1:g.84226G>A , LRG_413:g.84226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1361G>A (RAF1)	ENSP00000401088.1:n.*1361G>A
ENST00000432427.3:c.1013G>A (RAF1)
ENST00000460610.2:n.6008G>A (RAF1)
ENST00000471449.2:n.506G>A (RAF1)
ENST00000475353.2:n.3976G>A (RAF1)
ENST00000684903.1:c.*1373G>A (RAF1)	ENSP00000508612.1:n.*1373G>A
ENST00000685348.1:c.*1407G>A (RAF1)	ENSP00000510285.1:n.*1407G>A
ENST00000685437.1:c.1597G>A (RAF1)	ENSP00000508794.1:p.Ala533Thr
ENST00000685653.1:c.1696G>A (RAF1)	ENSP00000509968.1:p.Ala566Thr
ENST00000685697.1:n.2431G>A (RAF1)
ENST00000685738.1:c.*660G>A (RAF1)	ENSP00000510156.1:n.*660G>A
ENST00000686409.1:n.5105G>A (RAF1)
ENST00000686455.1:n.4417G>A (RAF1)
ENST00000686762.1:c.*255G>A (RAF1)	ENSP00000509767.1:n.*255G>A
ENST00000687257.1:n.4150G>A (RAF1)
ENST00000687326.1:c.*2988G>A (RAF1)	ENSP00000509665.1:n.*2988G>A
ENST00000687505.1:n.1814G>A (RAF1)
ENST00000687923.1:c.1585G>A (RAF1)	ENSP00000510255.1:p.Ala529Thr
ENST00000688269.1:n.2292G>A (RAF1)
ENST00000688444.1:n.3813G>A (RAF1)
ENST00000688543.1:c.1597G>A (RAF1)	ENSP00000509612.1:p.Ala533Thr
ENST00000688625.1:c.*3065G>A (RAF1)	ENSP00000509522.1:n.*3065G>A
ENST00000688803.1:n.3124G>A (RAF1)
ENST00000688914.1:n.1109G>A (RAF1)
ENST00000689097.1:c.*1373G>A (RAF1)	ENSP00000509756.1:n.*1373G>A
ENST00000689389.1:c.1519G>A (RAF1)	ENSP00000510213.1:p.Ala507Thr
ENST00000689418.1:c.*3591G>A (RAF1)	ENSP00000509467.1:n.*3591G>A
ENST00000689540.1:n.4064G>A (RAF1)
ENST00000689876.1:c.*245G>A (RAF1)	ENSP00000508535.1:n.*245G>A
ENST00000689914.1:c.*630G>A (RAF1)	ENSP00000509847.1:n.*630G>A
ENST00000690397.1:c.1585G>A (RAF1)	ENSP00000508730.1:p.Ala529Thr
ENST00000690460.1:c.1684G>A (RAF1)	ENSP00000509106.1:p.Ala562Thr
ENST00000690585.1:c.422G>A (RAF1)
ENST00000690625.1:n.2732G>A (RAF1)
ENST00000691396.1:c.*1568G>A (RAF1)	ENSP00000510712.1:n.*1568G>A
ENST00000691643.1:n.2749G>A (RAF1)
ENST00000691724.1:c.*653G>A (RAF1)	ENSP00000509255.1:n.*653G>A
ENST00000691779.1:c.*1274G>A (RAF1)	ENSP00000508592.1:n.*1274G>A
ENST00000691888.1:c.570G>A (RAF1)
ENST00000691899.1:c.1696G>A (RAF1)	ENSP00000508763.1:p.Ala566Thr
ENST00000692069.1:n.4620G>A (RAF1)
ENST00000692093.1:c.1597G>A (RAF1)	ENSP00000509669.1:p.Ala533Thr
ENST00000692311.1:n.2520G>A (RAF1)
ENST00000692558.1:n.4279G>A (RAF1)
ENST00000692773.1:c.*1433G>A (RAF1)	ENSP00000509055.1:n.*1433G>A
ENST00000692830.1:c.*1441G>A (RAF1)	ENSP00000509461.1:n.*1441G>A
ENST00000693312.1:c.1471G>A (RAF1)	ENSP00000508686.1:p.Ala491Thr
ENST00000693664.1:c.*147G>A (RAF1)	ENSP00000509614.1:n.*147G>A
ENST00000693705.1:c.*1075G>A (RAF1)	ENSP00000510697.1:n.*1075G>A
ENST00000251849.9:c.1696G>A (RAF1) MANE Select	ENSP00000251849.4:p.Ala566Thr
ENST00000442415.7:c.1756G>A (RAF1)	ENSP00000401888.2:p.Ala586Thr
ENST00000676541.1:c.*2701C>T (MKRN2)	ENSP00000503730.1:n.*2701C>T
ENST00000677142.1:c.*2701C>T (MKRN2)	ENSP00000504455.1:n.*2701C>T
ENST00000677816.1:c.*1256C>T (MKRN2)	ENSP00000502893.1:n.*1256C>T
ENST00000677941.1:n.2764C>T (MKRN2)
ENST00000251849.8:c.1696G>A (RAF1)	ENSP00000251849.4:p.Ala566Thr
ENST00000423275.5:c.*1373G>A (RAF1)	ENSP00000401088.1:n.*1373G>A
ENST00000432427.2:c.1333G>A (RAF1)	ENSP00000398591.2:p.Ala445Thr
ENST00000442415.6:c.1756G>A (RAF1)	ENSP00000401888.2:p.Ala586Thr
ENST00000471449.1:n.385G>A (RAF1)
NM_002880.3:c.1696G>A , LRG_413t1:c.1696G>A (RAF1)	NP_002871.1:p.Ala566Thr
XM_005265355.1:c.1696G>A (RAF1)	XP_005265412.1:p.Ala566Thr
XM_005265357.1:c.1597G>A (RAF1)	XP_005265414.1:p.Ala533Thr
XM_005265358.3:c.1453G>A (RAF1)	XP_005265415.1:p.Ala485Thr
XM_005265359.3:c.1354G>A (RAF1)	XP_005265416.1:p.Ala452Thr
XM_011533974.1:c.1696G>A (RAF1)	XP_011532276.1:p.Ala566Thr
XM_011533975.1:c.1453G>A (RAF1)	XP_011532277.1:p.Ala485Thr
NM_001354689.1:c.1756G>A (RAF1)	NP_001341618.1:p.Ala586Thr
NM_001354690.1:c.1696G>A (RAF1)	NP_001341619.1:p.Ala566Thr
NM_001354691.1:c.1453G>A (RAF1)	NP_001341620.1:p.Ala485Thr
NM_001354692.1:c.1453G>A (RAF1)	NP_001341621.1:p.Ala485Thr
NM_001354693.1:c.1597G>A (RAF1)	NP_001341622.1:p.Ala533Thr
NM_001354694.1:c.1513G>A (RAF1)	NP_001341623.1:p.Ala505Thr
NM_001354695.1:c.1354G>A (RAF1)	NP_001341624.1:p.Ala452Thr
NR_148940.1:n.2224G>A (RAF1)
NR_148941.1:n.2170G>A (RAF1)
NR_148942.1:n.2109G>A (RAF1)
XM_011533974.3:c.1696G>A (RAF1)	XP_011532276.1:p.Ala566Thr
XM_017006966.1:c.1597G>A (RAF1)	XP_016862455.1:p.Ala533Thr
NM_001354689.3:c.1756G>A (RAF1)	NP_001341618.1:p.Ala586Thr
NM_001354690.2:c.1696G>A (RAF1)	NP_001341619.1:p.Ala566Thr
NM_001354691.2:c.1453G>A (RAF1)	NP_001341620.1:p.Ala485Thr
NM_001354692.2:c.1453G>A (RAF1)	NP_001341621.1:p.Ala485Thr
NM_001354693.2:c.1597G>A (RAF1)	NP_001341622.1:p.Ala533Thr
NM_001354694.2:c.1513G>A (RAF1)	NP_001341623.1:p.Ala505Thr
NM_001354695.2:c.1354G>A (RAF1)	NP_001341624.1:p.Ala452Thr
NR_148940.2:n.2140G>A (RAF1)
NR_148941.2:n.2086G>A (RAF1)
NR_148942.2:n.2025G>A (RAF1)
NM_001354690.3:c.1696G>A (RAF1)	NP_001341619.1:p.Ala566Thr
NM_001354691.3:c.1453G>A (RAF1)	NP_001341620.1:p.Ala485Thr
NM_001354692.3:c.1453G>A (RAF1)	NP_001341621.1:p.Ala485Thr
NM_001354693.3:c.1597G>A (RAF1)	NP_001341622.1:p.Ala533Thr
NM_001354694.3:c.1513G>A (RAF1)	NP_001341623.1:p.Ala505Thr
NM_001354695.3:c.1354G>A (RAF1)	NP_001341624.1:p.Ala452Thr
NM_002880.4:c.1696G>A (RAF1) MANE Select	NP_002871.1:p.Ala566Thr
NR_148940.3:n.2140G>A (RAF1)
NR_148941.3:n.2086G>A (RAF1)
NR_148942.3:n.2025G>A (RAF1)