Canonical Allele Identifier: CA2259431

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 392315
• ClinVar RCV Id: RCV000418401
• dbSNP Id: rs754942031
• ExAC: 3:12626471 T / G
• gnomAD v2: 3-12626471-T-G
• gnomAD v4: 3-12584972-T-G
• MyVariant Identifiers: chr3:g.12626471T>G (hg19) ; chr3:g.12584972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584972T>G , CM000665.2:g.12584972T>G	GRCh38
NC_000003.11:g.12626471T>G , CM000665.1:g.12626471T>G	GRCh37
NC_000003.10:g.12601471T>G	NCBI36
NG_007467.1:g.84208A>C , LRG_413:g.84208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1343A>C (RAF1)	ENSP00000401088.1:n.*1343A>C
ENST00000432427.3:c.995A>C (RAF1)
ENST00000460610.2:n.5990A>C (RAF1)
ENST00000471449.2:n.488A>C (RAF1)
ENST00000475353.2:n.3958A>C (RAF1)
ENST00000684903.1:c.*1355A>C (RAF1)	ENSP00000508612.1:n.*1355A>C
ENST00000685348.1:c.*1389A>C (RAF1)	ENSP00000510285.1:n.*1389A>C
ENST00000685437.1:c.1579A>C (RAF1)	ENSP00000508794.1:p.Met527Leu
ENST00000685653.1:c.1678A>C (RAF1)	ENSP00000509968.1:p.Met560Leu
ENST00000685697.1:n.2413A>C (RAF1)
ENST00000685738.1:c.*642A>C (RAF1)	ENSP00000510156.1:n.*642A>C
ENST00000686409.1:n.5087A>C (RAF1)
ENST00000686455.1:n.4399A>C (RAF1)
ENST00000686762.1:c.*237A>C (RAF1)	ENSP00000509767.1:n.*237A>C
ENST00000687257.1:n.4132A>C (RAF1)
ENST00000687326.1:c.*2970A>C (RAF1)	ENSP00000509665.1:n.*2970A>C
ENST00000687505.1:n.1796A>C (RAF1)
ENST00000687923.1:c.1567A>C (RAF1)	ENSP00000510255.1:p.Met523Leu
ENST00000688269.1:n.2274A>C (RAF1)
ENST00000688444.1:n.3795A>C (RAF1)
ENST00000688543.1:c.1579A>C (RAF1)	ENSP00000509612.1:p.Met527Leu
ENST00000688625.1:c.*3047A>C (RAF1)	ENSP00000509522.1:n.*3047A>C
ENST00000688803.1:n.3106A>C (RAF1)
ENST00000688914.1:n.1091A>C (RAF1)
ENST00000689097.1:c.*1355A>C (RAF1)	ENSP00000509756.1:n.*1355A>C
ENST00000689389.1:c.1501A>C (RAF1)	ENSP00000510213.1:p.Met501Leu
ENST00000689418.1:c.*3573A>C (RAF1)	ENSP00000509467.1:n.*3573A>C
ENST00000689540.1:n.4046A>C (RAF1)
ENST00000689876.1:c.*227A>C (RAF1)	ENSP00000508535.1:n.*227A>C
ENST00000689914.1:c.*612A>C (RAF1)	ENSP00000509847.1:n.*612A>C
ENST00000690397.1:c.1567A>C (RAF1)	ENSP00000508730.1:p.Met523Leu
ENST00000690460.1:c.1666A>C (RAF1)	ENSP00000509106.1:p.Met556Leu
ENST00000690585.1:c.404A>C (RAF1)
ENST00000690625.1:n.2714A>C (RAF1)
ENST00000691396.1:c.*1550A>C (RAF1)	ENSP00000510712.1:n.*1550A>C
ENST00000691643.1:n.2731A>C (RAF1)
ENST00000691724.1:c.*635A>C (RAF1)	ENSP00000509255.1:n.*635A>C
ENST00000691779.1:c.*1256A>C (RAF1)	ENSP00000508592.1:n.*1256A>C
ENST00000691888.1:c.552A>C (RAF1)
ENST00000691899.1:c.1678A>C (RAF1)	ENSP00000508763.1:p.Met560Leu
ENST00000692069.1:n.4602A>C (RAF1)
ENST00000692093.1:c.1579A>C (RAF1)	ENSP00000509669.1:p.Met527Leu
ENST00000692311.1:n.2502A>C (RAF1)
ENST00000692558.1:n.4261A>C (RAF1)
ENST00000692773.1:c.*1415A>C (RAF1)	ENSP00000509055.1:n.*1415A>C
ENST00000692830.1:c.*1423A>C (RAF1)	ENSP00000509461.1:n.*1423A>C
ENST00000693312.1:c.1453A>C (RAF1)	ENSP00000508686.1:p.Met485Leu
ENST00000693664.1:c.*129A>C (RAF1)	ENSP00000509614.1:n.*129A>C
ENST00000693705.1:c.*1057A>C (RAF1)	ENSP00000510697.1:n.*1057A>C
ENST00000251849.9:c.1678A>C (RAF1) MANE Select	ENSP00000251849.4:p.Met560Leu
ENST00000442415.7:c.1738A>C (RAF1)	ENSP00000401888.2:p.Met580Leu
ENST00000676541.1:c.*2719T>G (MKRN2)	ENSP00000503730.1:n.*2719T>G
ENST00000677142.1:c.*2719T>G (MKRN2)	ENSP00000504455.1:n.*2719T>G
ENST00000677816.1:c.*1274T>G (MKRN2)	ENSP00000502893.1:n.*1274T>G
ENST00000677941.1:n.2782T>G (MKRN2)
ENST00000251849.8:c.1678A>C (RAF1)	ENSP00000251849.4:p.Met560Leu
ENST00000423275.5:c.*1355A>C (RAF1)	ENSP00000401088.1:n.*1355A>C
ENST00000432427.2:c.1315A>C (RAF1)	ENSP00000398591.2:p.Met439Leu
ENST00000442415.6:c.1738A>C (RAF1)	ENSP00000401888.2:p.Met580Leu
ENST00000471449.1:n.367A>C (RAF1)
NM_002880.3:c.1678A>C , LRG_413t1:c.1678A>C (RAF1)	NP_002871.1:p.Met560Leu
XM_005265355.1:c.1678A>C (RAF1)	XP_005265412.1:p.Met560Leu
XM_005265357.1:c.1579A>C (RAF1)	XP_005265414.1:p.Met527Leu
XM_005265358.3:c.1435A>C (RAF1)	XP_005265415.1:p.Met479Leu
XM_005265359.3:c.1336A>C (RAF1)	XP_005265416.1:p.Met446Leu
XM_011533974.1:c.1678A>C (RAF1)	XP_011532276.1:p.Met560Leu
XM_011533975.1:c.1435A>C (RAF1)	XP_011532277.1:p.Met479Leu
NM_001354689.1:c.1738A>C (RAF1)	NP_001341618.1:p.Met580Leu
NM_001354690.1:c.1678A>C (RAF1)	NP_001341619.1:p.Met560Leu
NM_001354691.1:c.1435A>C (RAF1)	NP_001341620.1:p.Met479Leu
NM_001354692.1:c.1435A>C (RAF1)	NP_001341621.1:p.Met479Leu
NM_001354693.1:c.1579A>C (RAF1)	NP_001341622.1:p.Met527Leu
NM_001354694.1:c.1495A>C (RAF1)	NP_001341623.1:p.Met499Leu
NM_001354695.1:c.1336A>C (RAF1)	NP_001341624.1:p.Met446Leu
NR_148940.1:n.2206A>C (RAF1)
NR_148941.1:n.2152A>C (RAF1)
NR_148942.1:n.2091A>C (RAF1)
XM_011533974.3:c.1678A>C (RAF1)	XP_011532276.1:p.Met560Leu
XM_017006966.1:c.1579A>C (RAF1)	XP_016862455.1:p.Met527Leu
NM_001354689.3:c.1738A>C (RAF1)	NP_001341618.1:p.Met580Leu
NM_001354690.2:c.1678A>C (RAF1)	NP_001341619.1:p.Met560Leu
NM_001354691.2:c.1435A>C (RAF1)	NP_001341620.1:p.Met479Leu
NM_001354692.2:c.1435A>C (RAF1)	NP_001341621.1:p.Met479Leu
NM_001354693.2:c.1579A>C (RAF1)	NP_001341622.1:p.Met527Leu
NM_001354694.2:c.1495A>C (RAF1)	NP_001341623.1:p.Met499Leu
NM_001354695.2:c.1336A>C (RAF1)	NP_001341624.1:p.Met446Leu
NR_148940.2:n.2122A>C (RAF1)
NR_148941.2:n.2068A>C (RAF1)
NR_148942.2:n.2007A>C (RAF1)
NM_001354690.3:c.1678A>C (RAF1)	NP_001341619.1:p.Met560Leu
NM_001354691.3:c.1435A>C (RAF1)	NP_001341620.1:p.Met479Leu
NM_001354692.3:c.1435A>C (RAF1)	NP_001341621.1:p.Met479Leu
NM_001354693.3:c.1579A>C (RAF1)	NP_001341622.1:p.Met527Leu
NM_001354694.3:c.1495A>C (RAF1)	NP_001341623.1:p.Met499Leu
NM_001354695.3:c.1336A>C (RAF1)	NP_001341624.1:p.Met446Leu
NM_002880.4:c.1678A>C (RAF1) MANE Select	NP_002871.1:p.Met560Leu
NR_148940.3:n.2122A>C (RAF1)
NR_148941.3:n.2068A>C (RAF1)
NR_148942.3:n.2007A>C (RAF1)