Canonical Allele Identifier: CA541675189

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs1351924314
• gnomAD v2: 3-12626491-G-A
• gnomAD v3: 3-12584992-G-A
• gnomAD v4: 3-12584992-G-A
• MyVariant Identifiers: chr3:g.12626491G>A (hg19) ; chr3:g.12584992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584992G>A , CM000665.2:g.12584992G>A	GRCh38
NC_000003.11:g.12626491G>A , CM000665.1:g.12626491G>A	GRCh37
NC_000003.10:g.12601491G>A	NCBI36
NG_007467.1:g.84188C>T , LRG_413:g.84188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1334-11C>T (RAF1)	ENSP00000401088.1:n.*1334-11C>T
ENST00000432427.3:c.986-11C>T (RAF1)
ENST00000460610.2:n.5970C>T (RAF1)
ENST00000471449.2:n.479-11C>T (RAF1)
ENST00000475353.2:n.3938C>T (RAF1)
ENST00000684903.1:c.*1346-11C>T (RAF1)	ENSP00000508612.1:n.*1346-11C>T
ENST00000685348.1:c.*1380-11C>T (RAF1)	ENSP00000510285.1:n.*1380-11C>T
ENST00000685437.1:c.1570-11C>T (RAF1)	ENSP00000508794.1:n.1570-11C>T
ENST00000685653.1:c.1669-11C>T (RAF1)	ENSP00000509968.1:n.1669-11C>T
ENST00000685697.1:n.2404-11C>T (RAF1)
ENST00000685738.1:c.*633-11C>T (RAF1)	ENSP00000510156.1:n.*633-11C>T
ENST00000686409.1:n.5067C>T (RAF1)
ENST00000686455.1:n.4379C>T (RAF1)
ENST00000686762.1:c.*228-11C>T (RAF1)	ENSP00000509767.1:n.*228-11C>T
ENST00000687257.1:n.4123-11C>T (RAF1)
ENST00000687326.1:c.*2950C>T (RAF1)	ENSP00000509665.1:n.*2950C>T
ENST00000687505.1:n.1787-11C>T (RAF1)
ENST00000687923.1:c.1558-11C>T (RAF1)	ENSP00000510255.1:n.1558-11C>T
ENST00000688269.1:n.2265-11C>T (RAF1)
ENST00000688444.1:n.3786-11C>T (RAF1)
ENST00000688543.1:c.1570-11C>T (RAF1)	ENSP00000509612.1:n.1570-11C>T
ENST00000688625.1:c.*3038-11C>T (RAF1)	ENSP00000509522.1:n.*3038-11C>T
ENST00000688803.1:n.3097-11C>T (RAF1)
ENST00000688914.1:n.1082-11C>T (RAF1)
ENST00000689097.1:c.*1346-11C>T (RAF1)	ENSP00000509756.1:n.*1346-11C>T
ENST00000689389.1:c.1492-11C>T (RAF1)	ENSP00000510213.1:n.1492-11C>T
ENST00000689418.1:c.*3564-11C>T (RAF1)	ENSP00000509467.1:n.*3564-11C>T
ENST00000689540.1:n.4037-11C>T (RAF1)
ENST00000689876.1:c.*218-11C>T (RAF1)	ENSP00000508535.1:n.*218-11C>T
ENST00000689914.1:c.*603-11C>T (RAF1)	ENSP00000509847.1:n.*603-11C>T
ENST00000690397.1:c.1558-11C>T (RAF1)	ENSP00000508730.1:n.1558-11C>T
ENST00000690460.1:c.1657-11C>T (RAF1)	ENSP00000509106.1:n.1657-11C>T
ENST00000690585.1:c.395-11C>T (RAF1)
ENST00000690625.1:n.2705-11C>T (RAF1)
ENST00000691396.1:c.*1541-11C>T (RAF1)	ENSP00000510712.1:n.*1541-11C>T
ENST00000691643.1:n.2722-11C>T (RAF1)
ENST00000691724.1:c.*626-11C>T (RAF1)	ENSP00000509255.1:n.*626-11C>T
ENST00000691779.1:c.*1247-11C>T (RAF1)	ENSP00000508592.1:n.*1247-11C>T
ENST00000691888.1:c.543-11C>T (RAF1)
ENST00000691899.1:c.1669-11C>T (RAF1)	ENSP00000508763.1:n.1669-11C>T
ENST00000692069.1:n.4582C>T (RAF1)
ENST00000692093.1:c.1570-11C>T (RAF1)	ENSP00000509669.1:n.1570-11C>T
ENST00000692311.1:n.2493-11C>T (RAF1)
ENST00000692558.1:n.4252-11C>T (RAF1)
ENST00000692773.1:c.*1406-11C>T (RAF1)	ENSP00000509055.1:n.*1406-11C>T
ENST00000692830.1:c.*1414-11C>T (RAF1)	ENSP00000509461.1:n.*1414-11C>T
ENST00000693312.1:c.1444-11C>T (RAF1)	ENSP00000508686.1:n.1444-11C>T
ENST00000693664.1:c.*120-11C>T (RAF1)	ENSP00000509614.1:n.*120-11C>T
ENST00000693705.1:c.*1048-11C>T (RAF1)	ENSP00000510697.1:n.*1048-11C>T
ENST00000251849.9:c.1669-11C>T (RAF1) MANE Select	ENSP00000251849.4:n.1669-11C>T
ENST00000442415.7:c.1729-11C>T (RAF1)	ENSP00000401888.2:n.1729-11C>T
ENST00000676541.1:c.*2739G>A (MKRN2)	ENSP00000503730.1:n.*2739G>A
ENST00000677142.1:c.*2739G>A (MKRN2)	ENSP00000504455.1:n.*2739G>A
ENST00000677816.1:c.*1294G>A (MKRN2)	ENSP00000502893.1:n.*1294G>A
ENST00000677941.1:n.2802G>A (MKRN2)
ENST00000251849.8:c.1669-11C>T (RAF1)	ENSP00000251849.4:n.1669-11C>T
ENST00000423275.5:c.*1346-11C>T (RAF1)	ENSP00000401088.1:n.*1346-11C>T
ENST00000432427.2:c.1306-11C>T (RAF1)	ENSP00000398591.2:n.1306-11C>T
ENST00000442415.6:c.1729-11C>T (RAF1)	ENSP00000401888.2:n.1729-11C>T
ENST00000471449.1:n.358-11C>T (RAF1)
NM_002880.3:c.1669-11C>T , LRG_413t1:c.1669-11C>T (RAF1)	NP_002871.1:n.1669-11C>T
XM_005265355.1:c.1669-11C>T (RAF1)	XP_005265412.1:n.1669-11C>T
XM_005265357.1:c.1570-11C>T (RAF1)	XP_005265414.1:n.1570-11C>T
XM_005265358.3:c.1426-11C>T (RAF1)	XP_005265415.1:n.1426-11C>T
XM_005265359.3:c.1327-11C>T (RAF1)	XP_005265416.1:n.1327-11C>T
XM_011533974.1:c.1669-11C>T (RAF1)	XP_011532276.1:n.1669-11C>T
XM_011533975.1:c.1426-11C>T (RAF1)	XP_011532277.1:n.1426-11C>T
NM_001354689.1:c.1729-11C>T (RAF1)	NP_001341618.1:n.1729-11C>T
NM_001354690.1:c.1669-11C>T (RAF1)	NP_001341619.1:n.1669-11C>T
NM_001354691.1:c.1426-11C>T (RAF1)	NP_001341620.1:n.1426-11C>T
NM_001354692.1:c.1426-11C>T (RAF1)	NP_001341621.1:n.1426-11C>T
NM_001354693.1:c.1570-11C>T (RAF1)	NP_001341622.1:n.1570-11C>T
NM_001354694.1:c.1486-11C>T (RAF1)	NP_001341623.1:n.1486-11C>T
NM_001354695.1:c.1327-11C>T (RAF1)	NP_001341624.1:n.1327-11C>T
NR_148940.1:n.2197-11C>T (RAF1)
NR_148941.1:n.2143-11C>T (RAF1)
NR_148942.1:n.2082-11C>T (RAF1)
XM_011533974.3:c.1669-11C>T (RAF1)	XP_011532276.1:n.1669-11C>T
XM_017006966.1:c.1570-11C>T (RAF1)	XP_016862455.1:n.1570-11C>T
NM_001354689.3:c.1729-11C>T (RAF1)	NP_001341618.1:n.1729-11C>T
NM_001354690.2:c.1669-11C>T (RAF1)	NP_001341619.1:n.1669-11C>T
NM_001354691.2:c.1426-11C>T (RAF1)	NP_001341620.1:n.1426-11C>T
NM_001354692.2:c.1426-11C>T (RAF1)	NP_001341621.1:n.1426-11C>T
NM_001354693.2:c.1570-11C>T (RAF1)	NP_001341622.1:n.1570-11C>T
NM_001354694.2:c.1486-11C>T (RAF1)	NP_001341623.1:n.1486-11C>T
NM_001354695.2:c.1327-11C>T (RAF1)	NP_001341624.1:n.1327-11C>T
NR_148940.2:n.2113-11C>T (RAF1)
NR_148941.2:n.2059-11C>T (RAF1)
NR_148942.2:n.1998-11C>T (RAF1)
NM_001354690.3:c.1669-11C>T (RAF1)	NP_001341619.1:n.1669-11C>T
NM_001354691.3:c.1426-11C>T (RAF1)	NP_001341620.1:n.1426-11C>T
NM_001354692.3:c.1426-11C>T (RAF1)	NP_001341621.1:n.1426-11C>T
NM_001354693.3:c.1570-11C>T (RAF1)	NP_001341622.1:n.1570-11C>T
NM_001354694.3:c.1486-11C>T (RAF1)	NP_001341623.1:n.1486-11C>T
NM_001354695.3:c.1327-11C>T (RAF1)	NP_001341624.1:n.1327-11C>T
NM_002880.4:c.1669-11C>T (RAF1) MANE Select	NP_002871.1:n.1669-11C>T
NR_148940.3:n.2113-11C>T (RAF1)
NR_148941.3:n.2059-11C>T (RAF1)
NR_148942.3:n.1998-11C>T (RAF1)