Canonical Allele Identifier: CA2259424

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs760009469
• ExAC: 3:12626411 C / T
• gnomAD v2: 3-12626411-C-T
• gnomAD v4: 3-12584912-C-T
• MyVariant Identifiers: chr3:g.12626411C>T (hg19) ; chr3:g.12584912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584912C>T , CM000665.2:g.12584912C>T	GRCh38
NC_000003.11:g.12626411C>T , CM000665.1:g.12626411C>T	GRCh37
NC_000003.10:g.12601411C>T	NCBI36
NG_007467.1:g.84268G>A , LRG_413:g.84268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1403G>A (RAF1)	ENSP00000401088.1:n.*1403G>A
ENST00000432427.3:c.1055G>A (RAF1)
ENST00000460610.2:n.6050G>A (RAF1)
ENST00000471449.2:n.548G>A (RAF1)
ENST00000475353.2:n.4018G>A (RAF1)
ENST00000684903.1:c.*1415G>A (RAF1)	ENSP00000508612.1:n.*1415G>A
ENST00000685348.1:c.*1449G>A (RAF1)	ENSP00000510285.1:n.*1449G>A
ENST00000685437.1:c.1639G>A (RAF1)	ENSP00000508794.1:p.Ala547Thr
ENST00000685653.1:c.1738G>A (RAF1)	ENSP00000509968.1:p.Ala580Thr
ENST00000685697.1:n.2473G>A (RAF1)
ENST00000685738.1:c.*702G>A (RAF1)	ENSP00000510156.1:n.*702G>A
ENST00000686409.1:n.5147G>A (RAF1)
ENST00000686455.1:n.4459G>A (RAF1)
ENST00000686762.1:c.*297G>A (RAF1)	ENSP00000509767.1:n.*297G>A
ENST00000687257.1:n.4192G>A (RAF1)
ENST00000687326.1:c.*3030G>A (RAF1)	ENSP00000509665.1:n.*3030G>A
ENST00000687505.1:n.1856G>A (RAF1)
ENST00000687923.1:c.1627G>A (RAF1)	ENSP00000510255.1:p.Ala543Thr
ENST00000688269.1:n.2334G>A (RAF1)
ENST00000688444.1:n.3855G>A (RAF1)
ENST00000688543.1:c.1639G>A (RAF1)	ENSP00000509612.1:p.Ala547Thr
ENST00000688625.1:c.*3107G>A (RAF1)	ENSP00000509522.1:n.*3107G>A
ENST00000688803.1:n.3166G>A (RAF1)
ENST00000688914.1:n.1151G>A (RAF1)
ENST00000689097.1:c.*1415G>A (RAF1)	ENSP00000509756.1:n.*1415G>A
ENST00000689389.1:c.1561G>A (RAF1)	ENSP00000510213.1:p.Ala521Thr
ENST00000689418.1:c.*3633G>A (RAF1)	ENSP00000509467.1:n.*3633G>A
ENST00000689540.1:n.4106G>A (RAF1)
ENST00000689876.1:c.*287G>A (RAF1)	ENSP00000508535.1:n.*287G>A
ENST00000689914.1:c.*672G>A (RAF1)	ENSP00000509847.1:n.*672G>A
ENST00000690397.1:c.1627G>A (RAF1)	ENSP00000508730.1:p.Ala543Thr
ENST00000690460.1:c.1726G>A (RAF1)	ENSP00000509106.1:p.Ala576Thr
ENST00000690585.1:c.464G>A (RAF1)
ENST00000690625.1:n.2774G>A (RAF1)
ENST00000691396.1:c.*1610G>A (RAF1)	ENSP00000510712.1:n.*1610G>A
ENST00000691643.1:n.2791G>A (RAF1)
ENST00000691724.1:c.*695G>A (RAF1)	ENSP00000509255.1:n.*695G>A
ENST00000691779.1:c.*1316G>A (RAF1)	ENSP00000508592.1:n.*1316G>A
ENST00000691888.1:c.612G>A (RAF1)
ENST00000691899.1:c.1738G>A (RAF1)	ENSP00000508763.1:p.Ala580Thr
ENST00000692069.1:n.4662G>A (RAF1)
ENST00000692093.1:c.1639G>A (RAF1)	ENSP00000509669.1:p.Ala547Thr
ENST00000692311.1:n.2562G>A (RAF1)
ENST00000692558.1:n.4321G>A (RAF1)
ENST00000692773.1:c.*1475G>A (RAF1)	ENSP00000509055.1:n.*1475G>A
ENST00000692830.1:c.*1483G>A (RAF1)	ENSP00000509461.1:n.*1483G>A
ENST00000693312.1:c.1513G>A (RAF1)	ENSP00000508686.1:p.Ala505Thr
ENST00000693664.1:c.*189G>A (RAF1)	ENSP00000509614.1:n.*189G>A
ENST00000693705.1:c.*1117G>A (RAF1)	ENSP00000510697.1:n.*1117G>A
ENST00000251849.9:c.1738G>A (RAF1) MANE Select	ENSP00000251849.4:p.Ala580Thr
ENST00000442415.7:c.1798G>A (RAF1)	ENSP00000401888.2:p.Ala600Thr
ENST00000676541.1:c.*2659C>T (MKRN2)	ENSP00000503730.1:n.*2659C>T
ENST00000677142.1:c.*2659C>T (MKRN2)	ENSP00000504455.1:n.*2659C>T
ENST00000677816.1:c.*1214C>T (MKRN2)	ENSP00000502893.1:n.*1214C>T
ENST00000677941.1:n.2722C>T (MKRN2)
ENST00000251849.8:c.1738G>A (RAF1)	ENSP00000251849.4:p.Ala580Thr
ENST00000423275.5:c.*1415G>A (RAF1)	ENSP00000401088.1:n.*1415G>A
ENST00000432427.2:c.1375G>A (RAF1)	ENSP00000398591.2:p.Ala459Thr
ENST00000442415.6:c.1798G>A (RAF1)	ENSP00000401888.2:p.Ala600Thr
ENST00000471449.1:n.427G>A (RAF1)
NM_002880.3:c.1738G>A , LRG_413t1:c.1738G>A (RAF1)	NP_002871.1:p.Ala580Thr
XM_005265355.1:c.1738G>A (RAF1)	XP_005265412.1:p.Ala580Thr
XM_005265357.1:c.1639G>A (RAF1)	XP_005265414.1:p.Ala547Thr
XM_005265358.3:c.1495G>A (RAF1)	XP_005265415.1:p.Ala499Thr
XM_005265359.3:c.1396G>A (RAF1)	XP_005265416.1:p.Ala466Thr
XM_011533974.1:c.1738G>A (RAF1)	XP_011532276.1:p.Ala580Thr
XM_011533975.1:c.1495G>A (RAF1)	XP_011532277.1:p.Ala499Thr
NM_001354689.1:c.1798G>A (RAF1)	NP_001341618.1:p.Ala600Thr
NM_001354690.1:c.1738G>A (RAF1)	NP_001341619.1:p.Ala580Thr
NM_001354691.1:c.1495G>A (RAF1)	NP_001341620.1:p.Ala499Thr
NM_001354692.1:c.1495G>A (RAF1)	NP_001341621.1:p.Ala499Thr
NM_001354693.1:c.1639G>A (RAF1)	NP_001341622.1:p.Ala547Thr
NM_001354694.1:c.1555G>A (RAF1)	NP_001341623.1:p.Ala519Thr
NM_001354695.1:c.1396G>A (RAF1)	NP_001341624.1:p.Ala466Thr
NR_148940.1:n.2266G>A (RAF1)
NR_148941.1:n.2212G>A (RAF1)
NR_148942.1:n.2151G>A (RAF1)
XM_011533974.3:c.1738G>A (RAF1)	XP_011532276.1:p.Ala580Thr
XM_017006966.1:c.1639G>A (RAF1)	XP_016862455.1:p.Ala547Thr
NM_001354689.3:c.1798G>A (RAF1)	NP_001341618.1:p.Ala600Thr
NM_001354690.2:c.1738G>A (RAF1)	NP_001341619.1:p.Ala580Thr
NM_001354691.2:c.1495G>A (RAF1)	NP_001341620.1:p.Ala499Thr
NM_001354692.2:c.1495G>A (RAF1)	NP_001341621.1:p.Ala499Thr
NM_001354693.2:c.1639G>A (RAF1)	NP_001341622.1:p.Ala547Thr
NM_001354694.2:c.1555G>A (RAF1)	NP_001341623.1:p.Ala519Thr
NM_001354695.2:c.1396G>A (RAF1)	NP_001341624.1:p.Ala466Thr
NR_148940.2:n.2182G>A (RAF1)
NR_148941.2:n.2128G>A (RAF1)
NR_148942.2:n.2067G>A (RAF1)
NM_001354690.3:c.1738G>A (RAF1)	NP_001341619.1:p.Ala580Thr
NM_001354691.3:c.1495G>A (RAF1)	NP_001341620.1:p.Ala499Thr
NM_001354692.3:c.1495G>A (RAF1)	NP_001341621.1:p.Ala499Thr
NM_001354693.3:c.1639G>A (RAF1)	NP_001341622.1:p.Ala547Thr
NM_001354694.3:c.1555G>A (RAF1)	NP_001341623.1:p.Ala519Thr
NM_001354695.3:c.1396G>A (RAF1)	NP_001341624.1:p.Ala466Thr
NM_002880.4:c.1738G>A (RAF1) MANE Select	NP_002871.1:p.Ala580Thr
NR_148940.3:n.2182G>A (RAF1)
NR_148941.3:n.2128G>A (RAF1)
NR_148942.3:n.2067G>A (RAF1)