Canonical Allele Identifier: CA351499139

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125326232
• gnomAD v4: 3-12585756-A-T
• MyVariant Identifiers: chr3:g.12627255A>T (hg19) ; chr3:g.12585756A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585756A>T , CM000665.2:g.12585756A>T	GRCh38
NC_000003.11:g.12627255A>T , CM000665.1:g.12627255A>T	GRCh37
NC_000003.10:g.12602255A>T	NCBI36
NG_007467.1:g.83424T>A , LRG_413:g.83424T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1126T>A (RAF1)	ENSP00000401088.1:n.*1126T>A
ENST00000432427.3:c.778T>A (RAF1)
ENST00000460610.2:n.5206T>A (RAF1)
ENST00000471449.2:n.271T>A (RAF1)
ENST00000475353.2:n.3174T>A (RAF1)
ENST00000684903.1:c.*1138T>A (RAF1)	ENSP00000508612.1:n.*1138T>A
ENST00000685348.1:c.*1095-350T>A (RAF1)	ENSP00000510285.1:n.*1095-350T>A
ENST00000685437.1:c.1362T>A (RAF1)	ENSP00000508794.1:p.Phe454Leu
ENST00000685653.1:c.1461T>A (RAF1)	ENSP00000509968.1:p.Phe487Leu
ENST00000685697.1:n.2196T>A (RAF1)
ENST00000685738.1:c.*425T>A (RAF1)	ENSP00000510156.1:n.*425T>A
ENST00000686409.1:n.4303T>A (RAF1)
ENST00000686455.1:n.3615T>A (RAF1)
ENST00000686762.1:c.*20T>A (RAF1)	ENSP00000509767.1:n.*20T>A
ENST00000687257.1:n.3488T>A (RAF1)
ENST00000687326.1:c.*2186T>A (RAF1)	ENSP00000509665.1:n.*2186T>A
ENST00000687505.1:n.1579T>A (RAF1)
ENST00000687923.1:c.1350T>A (RAF1)	ENSP00000510255.1:p.Phe450Leu
ENST00000688269.1:n.2057T>A (RAF1)
ENST00000688444.1:n.3578T>A (RAF1)
ENST00000688543.1:c.1362T>A (RAF1)	ENSP00000509612.1:p.Phe454Leu
ENST00000688625.1:c.*2830T>A (RAF1)	ENSP00000509522.1:n.*2830T>A
ENST00000688803.1:n.2965-503T>A (RAF1)
ENST00000688914.1:n.447T>A (RAF1)
ENST00000689097.1:c.*1138T>A (RAF1)	ENSP00000509756.1:n.*1138T>A
ENST00000689389.1:c.1284T>A (RAF1)	ENSP00000510213.1:p.Phe428Leu
ENST00000689418.1:c.*2929T>A (RAF1)	ENSP00000509467.1:n.*2929T>A
ENST00000689540.1:n.3402T>A (RAF1)
ENST00000689876.1:c.1418-350T>A (RAF1)	ENSP00000508535.1:n.1418-350T>A
ENST00000689914.1:c.*395T>A (RAF1)	ENSP00000509847.1:n.*395T>A
ENST00000690397.1:c.1350T>A (RAF1)	ENSP00000508730.1:p.Phe450Leu
ENST00000690460.1:c.1449T>A (RAF1)	ENSP00000509106.1:p.Phe483Leu
ENST00000690585.1:c.263-503T>A (RAF1)
ENST00000690625.1:n.2497T>A (RAF1)
ENST00000691396.1:c.*1333T>A (RAF1)	ENSP00000510712.1:n.*1333T>A
ENST00000691643.1:n.2087T>A (RAF1)
ENST00000691724.1:c.*418T>A (RAF1)	ENSP00000509255.1:n.*418T>A
ENST00000691779.1:c.*1039T>A (RAF1)	ENSP00000508592.1:n.*1039T>A
ENST00000691888.1:c.335T>A (RAF1)
ENST00000691899.1:c.1461T>A (RAF1)	ENSP00000508763.1:p.Phe487Leu
ENST00000692069.1:n.3818T>A (RAF1)
ENST00000692093.1:c.1362T>A (RAF1)	ENSP00000509669.1:p.Phe454Leu
ENST00000692311.1:n.2285T>A (RAF1)
ENST00000692558.1:n.3617T>A (RAF1)
ENST00000692773.1:c.*1198T>A (RAF1)	ENSP00000509055.1:n.*1198T>A
ENST00000692830.1:c.*1206T>A (RAF1)	ENSP00000509461.1:n.*1206T>A
ENST00000693312.1:c.1236T>A (RAF1)	ENSP00000508686.1:p.Phe412Leu
ENST00000693664.1:c.1488-503T>A (RAF1)	ENSP00000509614.1:n.1488-503T>A
ENST00000693705.1:c.*1048-775T>A (RAF1)	ENSP00000510697.1:n.*1048-775T>A
ENST00000251849.9:c.1461T>A (RAF1) MANE Select	ENSP00000251849.4:p.Phe487Leu
ENST00000442415.7:c.1521T>A (RAF1)	ENSP00000401888.2:p.Phe507Leu
ENST00000676541.1:c.*3503A>T (MKRN2)	ENSP00000503730.1:n.*3503A>T
ENST00000677142.1:c.*3503A>T (MKRN2)	ENSP00000504455.1:n.*3503A>T
ENST00000677816.1:c.*2058A>T (MKRN2)	ENSP00000502893.1:n.*2058A>T
ENST00000677941.1:n.3566A>T (MKRN2)
ENST00000251849.8:c.1461T>A (RAF1)	ENSP00000251849.4:p.Phe487Leu
ENST00000423275.5:c.*1138T>A (RAF1)	ENSP00000401088.1:n.*1138T>A
ENST00000432427.2:c.1098T>A (RAF1)	ENSP00000398591.2:p.Phe366Leu
ENST00000442415.6:c.1521T>A (RAF1)	ENSP00000401888.2:p.Phe507Leu
ENST00000471449.1:n.150T>A (RAF1)
NM_002880.3:c.1461T>A , LRG_413t1:c.1461T>A (RAF1)	NP_002871.1:p.Phe487Leu
XM_005265355.1:c.1461T>A (RAF1)	XP_005265412.1:p.Phe487Leu
XM_005265357.1:c.1362T>A (RAF1)	XP_005265414.1:p.Phe454Leu
XM_005265358.3:c.1218T>A (RAF1)	XP_005265415.1:p.Phe406Leu
XM_005265359.3:c.1119T>A (RAF1)	XP_005265416.1:p.Phe373Leu
XM_005265360.1:c.1418-350T>A (RAF1)	XP_005265417.1:n.1418-350T>A
XM_011533974.1:c.1461T>A (RAF1)	XP_011532276.1:p.Phe487Leu
XM_011533975.1:c.1218T>A (RAF1)	XP_011532277.1:p.Phe406Leu
NM_001354689.1:c.1521T>A (RAF1)	NP_001341618.1:p.Phe507Leu
NM_001354690.1:c.1461T>A (RAF1)	NP_001341619.1:p.Phe487Leu
NM_001354691.1:c.1218T>A (RAF1)	NP_001341620.1:p.Phe406Leu
NM_001354692.1:c.1218T>A (RAF1)	NP_001341621.1:p.Phe406Leu
NM_001354693.1:c.1362T>A (RAF1)	NP_001341622.1:p.Phe454Leu
NM_001354694.1:c.1278T>A (RAF1)	NP_001341623.1:p.Phe426Leu
NM_001354695.1:c.1119T>A (RAF1)	NP_001341624.1:p.Phe373Leu
NR_148940.1:n.1989T>A (RAF1)
NR_148941.1:n.1935T>A (RAF1)
NR_148942.1:n.1874T>A (RAF1)
XM_011533974.3:c.1461T>A (RAF1)	XP_011532276.1:p.Phe487Leu
XM_017006966.1:c.1362T>A (RAF1)	XP_016862455.1:p.Phe454Leu
NM_001354689.3:c.1521T>A (RAF1)	NP_001341618.1:p.Phe507Leu
NM_001354690.2:c.1461T>A (RAF1)	NP_001341619.1:p.Phe487Leu
NM_001354691.2:c.1218T>A (RAF1)	NP_001341620.1:p.Phe406Leu
NM_001354692.2:c.1218T>A (RAF1)	NP_001341621.1:p.Phe406Leu
NM_001354693.2:c.1362T>A (RAF1)	NP_001341622.1:p.Phe454Leu
NM_001354694.2:c.1278T>A (RAF1)	NP_001341623.1:p.Phe426Leu
NM_001354695.2:c.1119T>A (RAF1)	NP_001341624.1:p.Phe373Leu
NR_148940.2:n.1905T>A (RAF1)
NR_148941.2:n.1851T>A (RAF1)
NR_148942.2:n.1790T>A (RAF1)
NM_001354690.3:c.1461T>A (RAF1)	NP_001341619.1:p.Phe487Leu
NM_001354691.3:c.1218T>A (RAF1)	NP_001341620.1:p.Phe406Leu
NM_001354692.3:c.1218T>A (RAF1)	NP_001341621.1:p.Phe406Leu
NM_001354693.3:c.1362T>A (RAF1)	NP_001341622.1:p.Phe454Leu
NM_001354694.3:c.1278T>A (RAF1)	NP_001341623.1:p.Phe426Leu
NM_001354695.3:c.1119T>A (RAF1)	NP_001341624.1:p.Phe373Leu
NM_002880.4:c.1461T>A (RAF1) MANE Select	NP_002871.1:p.Phe487Leu
NR_148940.3:n.1905T>A (RAF1)
NR_148941.3:n.1851T>A (RAF1)
NR_148942.3:n.1790T>A (RAF1)