Canonical Allele Identifier: CA351495480

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1696596
• ClinVar RCV Id: RCV002266726
• dbSNP Id: rs587777587
• gnomAD v4: 3-12584539-G-C
• MyVariant Identifiers: chr3:g.12626038G>C (hg19) ; chr3:g.12584539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584539G>C , CM000665.2:g.12584539G>C	GRCh38
NC_000003.11:g.12626038G>C , CM000665.1:g.12626038G>C	GRCh37
NC_000003.10:g.12601038G>C	NCBI36
NG_007467.1:g.84641C>G , LRG_413:g.84641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1587C>G (RAF1)	ENSP00000401088.1:n.*1587C>G
ENST00000432427.3:c.1239C>G (RAF1)
ENST00000460610.2:n.6234C>G (RAF1)
ENST00000471449.2:n.732C>G (RAF1)
ENST00000475353.2:n.4202C>G (RAF1)
ENST00000684903.1:c.*1599C>G (RAF1)	ENSP00000508612.1:n.*1599C>G
ENST00000685348.1:c.*1633C>G (RAF1)	ENSP00000510285.1:n.*1633C>G
ENST00000685437.1:c.1823C>G (RAF1)	ENSP00000508794.1:p.Thr608Arg
ENST00000685653.1:c.1922C>G (RAF1)	ENSP00000509968.1:p.Thr641Arg
ENST00000685697.1:n.2657C>G (RAF1)
ENST00000685738.1:c.*886C>G (RAF1)	ENSP00000510156.1:n.*886C>G
ENST00000686409.1:n.5331C>G (RAF1)
ENST00000686455.1:n.4643C>G (RAF1)
ENST00000686762.1:c.*481C>G (RAF1)	ENSP00000509767.1:n.*481C>G
ENST00000687257.1:n.4376C>G (RAF1)
ENST00000687326.1:c.*3214C>G (RAF1)	ENSP00000509665.1:n.*3214C>G
ENST00000687505.1:n.2040C>G (RAF1)
ENST00000687923.1:c.1811C>G (RAF1)	ENSP00000510255.1:p.Thr604Arg
ENST00000688269.1:n.2518C>G (RAF1)
ENST00000688444.1:n.4039C>G (RAF1)
ENST00000688543.1:c.1823C>G (RAF1)	ENSP00000509612.1:p.Thr608Arg
ENST00000688625.1:c.*3291C>G (RAF1)	ENSP00000509522.1:n.*3291C>G
ENST00000688803.1:n.3350C>G (RAF1)
ENST00000689097.1:c.*1599C>G (RAF1)	ENSP00000509756.1:n.*1599C>G
ENST00000689389.1:c.1745C>G (RAF1)	ENSP00000510213.1:p.Thr582Arg
ENST00000689418.1:c.*3817C>G (RAF1)	ENSP00000509467.1:n.*3817C>G
ENST00000689540.1:n.4290C>G (RAF1)
ENST00000689876.1:c.*471C>G (RAF1)	ENSP00000508535.1:n.*471C>G
ENST00000689914.1:c.*856C>G (RAF1)	ENSP00000509847.1:n.*856C>G
ENST00000690397.1:c.1811C>G (RAF1)	ENSP00000508730.1:p.Thr604Arg
ENST00000690460.1:c.1910C>G (RAF1)	ENSP00000509106.1:p.Thr637Arg
ENST00000690585.1:c.648C>G (RAF1)
ENST00000690625.1:n.2958C>G (RAF1)
ENST00000691396.1:c.*1794C>G (RAF1)	ENSP00000510712.1:n.*1794C>G
ENST00000691643.1:n.2975C>G (RAF1)
ENST00000691724.1:c.*879C>G (RAF1)	ENSP00000509255.1:n.*879C>G
ENST00000691779.1:c.*1500C>G (RAF1)	ENSP00000508592.1:n.*1500C>G
ENST00000691888.1:c.796C>G (RAF1)
ENST00000691899.1:c.1922C>G (RAF1)	ENSP00000508763.1:p.Thr641Arg
ENST00000692069.1:n.4846C>G (RAF1)
ENST00000692093.1:c.1823C>G (RAF1)	ENSP00000509669.1:p.Thr608Arg
ENST00000692311.1:n.2746C>G (RAF1)
ENST00000692558.1:n.4505C>G (RAF1)
ENST00000692773.1:c.*1659C>G (RAF1)	ENSP00000509055.1:n.*1659C>G
ENST00000692830.1:c.*1667C>G (RAF1)	ENSP00000509461.1:n.*1667C>G
ENST00000693312.1:c.1697C>G (RAF1)	ENSP00000508686.1:p.Thr566Arg
ENST00000693664.1:c.*373C>G (RAF1)	ENSP00000509614.1:n.*373C>G
ENST00000693705.1:c.*1301C>G (RAF1)	ENSP00000510697.1:n.*1301C>G
ENST00000251849.9:c.1922C>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr641Arg
ENST00000442415.7:c.1982C>G (RAF1)	ENSP00000401888.2:p.Thr661Arg
ENST00000676541.1:c.*2286G>C (MKRN2)	ENSP00000503730.1:n.*2286G>C
ENST00000677142.1:c.*2286G>C (MKRN2)	ENSP00000504455.1:n.*2286G>C
ENST00000677816.1:c.*841G>C (MKRN2)	ENSP00000502893.1:n.*841G>C
ENST00000677941.1:n.2349G>C (MKRN2)
ENST00000251849.8:c.1922C>G (RAF1)	ENSP00000251849.4:p.Thr641Arg
ENST00000423275.5:c.*1599C>G (RAF1)	ENSP00000401088.1:n.*1599C>G
ENST00000432427.2:c.1559C>G (RAF1)	ENSP00000398591.2:p.Thr520Arg
ENST00000442415.6:c.1982C>G (RAF1)	ENSP00000401888.2:p.Thr661Arg
ENST00000471449.1:n.611C>G (RAF1)
NM_002880.3:c.1922C>G , LRG_413t1:c.1922C>G (RAF1)	NP_002871.1:p.Thr641Arg
XM_005265355.1:c.1922C>G (RAF1)	XP_005265412.1:p.Thr641Arg
XM_005265357.1:c.1823C>G (RAF1)	XP_005265414.1:p.Thr608Arg
XM_005265358.3:c.1679C>G (RAF1)	XP_005265415.1:p.Thr560Arg
XM_005265359.3:c.1580C>G (RAF1)	XP_005265416.1:p.Thr527Arg
XM_011533974.1:c.1922C>G (RAF1)	XP_011532276.1:p.Thr641Arg
XM_011533975.1:c.1679C>G (RAF1)	XP_011532277.1:p.Thr560Arg
NM_001354689.1:c.1982C>G (RAF1)	NP_001341618.1:p.Thr661Arg
NM_001354690.1:c.1922C>G (RAF1)	NP_001341619.1:p.Thr641Arg
NM_001354691.1:c.1679C>G (RAF1)	NP_001341620.1:p.Thr560Arg
NM_001354692.1:c.1679C>G (RAF1)	NP_001341621.1:p.Thr560Arg
NM_001354693.1:c.1823C>G (RAF1)	NP_001341622.1:p.Thr608Arg
NM_001354694.1:c.1739C>G (RAF1)	NP_001341623.1:p.Thr580Arg
NM_001354695.1:c.1580C>G (RAF1)	NP_001341624.1:p.Thr527Arg
NR_148940.1:n.2450C>G (RAF1)
NR_148941.1:n.2396C>G (RAF1)
NR_148942.1:n.2335C>G (RAF1)
XM_011533974.3:c.1922C>G (RAF1)	XP_011532276.1:p.Thr641Arg
XM_017006966.1:c.1823C>G (RAF1)	XP_016862455.1:p.Thr608Arg
NM_001354689.3:c.1982C>G (RAF1)	NP_001341618.1:p.Thr661Arg
NM_001354690.2:c.1922C>G (RAF1)	NP_001341619.1:p.Thr641Arg
NM_001354691.2:c.1679C>G (RAF1)	NP_001341620.1:p.Thr560Arg
NM_001354692.2:c.1679C>G (RAF1)	NP_001341621.1:p.Thr560Arg
NM_001354693.2:c.1823C>G (RAF1)	NP_001341622.1:p.Thr608Arg
NM_001354694.2:c.1739C>G (RAF1)	NP_001341623.1:p.Thr580Arg
NM_001354695.2:c.1580C>G (RAF1)	NP_001341624.1:p.Thr527Arg
NR_148940.2:n.2366C>G (RAF1)
NR_148941.2:n.2312C>G (RAF1)
NR_148942.2:n.2251C>G (RAF1)
NM_001354690.3:c.1922C>G (RAF1)	NP_001341619.1:p.Thr641Arg
NM_001354691.3:c.1679C>G (RAF1)	NP_001341620.1:p.Thr560Arg
NM_001354692.3:c.1679C>G (RAF1)	NP_001341621.1:p.Thr560Arg
NM_001354693.3:c.1823C>G (RAF1)	NP_001341622.1:p.Thr608Arg
NM_001354694.3:c.1739C>G (RAF1)	NP_001341623.1:p.Thr580Arg
NM_001354695.3:c.1580C>G (RAF1)	NP_001341624.1:p.Thr527Arg
NM_002880.4:c.1922C>G (RAF1) MANE Select	NP_002871.1:p.Thr641Arg
NR_148940.3:n.2366C>G (RAF1)
NR_148941.3:n.2312C>G (RAF1)
NR_148942.3:n.2251C>G (RAF1)