Canonical Allele Identifier: CA69609087

Gene: RAF1

Linked Data

• ClinVar Variation Id: 1135000
• ClinVar RCV Id: RCV001470128
• dbSNP Id: rs890823225
• gnomAD v2: 3-12632428-T-C
• gnomAD v3: 3-12590929-T-C
• gnomAD v4: 3-12590929-T-C
• MyVariant Identifiers: chr3:g.12632428T>C (hg19) ; chr3:g.12590929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590929T>C , CM000665.2:g.12590929T>C	GRCh38
NC_000003.11:g.12632428T>C , CM000665.1:g.12632428T>C	GRCh37
NC_000003.10:g.12607428T>C	NCBI36
NG_007467.1:g.78251A>G , LRG_413:g.78251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*904A>G	ENSP00000401088.1:n.*904A>G
ENST00000432427.3:c.556A>G
ENST00000460610.2:n.33A>G
ENST00000465826.6:n.830A>G
ENST00000475353.2:n.1161A>G
ENST00000494557.2:n.1050A>G
ENST00000684903.1:c.*916A>G	ENSP00000508612.1:n.*916A>G
ENST00000685348.1:c.*916A>G	ENSP00000510285.1:n.*916A>G
ENST00000685437.1:c.1140A>G	ENSP00000508794.1:p.Thr380=
ENST00000685653.1:c.1239A>G	ENSP00000509968.1:p.Thr413=
ENST00000685738.1:c.*203A>G	ENSP00000510156.1:n.*203A>G
ENST00000686409.1:n.2290A>G
ENST00000686455.1:n.1602A>G
ENST00000686762.1:c.1239A>G	ENSP00000509767.1:p.Thr413=
ENST00000687257.1:n.1475A>G
ENST00000687326.1:c.*173A>G	ENSP00000509665.1:n.*173A>G
ENST00000687505.1:n.1357A>G
ENST00000687923.1:c.1128A>G	ENSP00000510255.1:p.Thr376=
ENST00000687940.1:n.1616A>G
ENST00000688269.1:n.1835A>G
ENST00000688326.1:c.672A>G
ENST00000688444.1:n.1565A>G
ENST00000688543.1:c.1140A>G	ENSP00000509612.1:p.Thr380=
ENST00000688625.1:c.*817A>G	ENSP00000509522.1:n.*817A>G
ENST00000688803.1:n.1470A>G
ENST00000688914.1:n.225A>G
ENST00000689097.1:c.*916A>G	ENSP00000509756.1:n.*916A>G
ENST00000689389.1:c.1193+779A>G	ENSP00000510213.1:n.1193+779A>G
ENST00000689418.1:c.*916A>G	ENSP00000509467.1:n.*916A>G
ENST00000689481.1:c.*916A>G	ENSP00000510248.1:n.*916A>G
ENST00000689540.1:n.1389A>G
ENST00000689876.1:c.1239A>G	ENSP00000508535.1:p.Thr413=
ENST00000689914.1:c.*173A>G	ENSP00000509847.1:n.*173A>G
ENST00000690397.1:c.1128A>G	ENSP00000508730.1:p.Thr376=
ENST00000690460.1:c.1227A>G	ENSP00000509106.1:p.Thr409=
ENST00000690585.1:c.131A>G
ENST00000690625.1:n.2275A>G
ENST00000691396.1:c.*1091A>G	ENSP00000510712.1:n.*1091A>G
ENST00000691724.1:c.*196A>G	ENSP00000509255.1:n.*196A>G
ENST00000691779.1:c.*817A>G	ENSP00000508592.1:n.*817A>G
ENST00000691888.1:c.131A>G
ENST00000691899.1:c.1239A>G	ENSP00000508763.1:p.Thr413=
ENST00000692069.1:n.1805A>G
ENST00000692093.1:c.1140A>G	ENSP00000509669.1:p.Thr380=
ENST00000692311.1:n.2063A>G
ENST00000692558.1:n.1604A>G
ENST00000692773.1:c.*976A>G	ENSP00000509055.1:n.*976A>G
ENST00000692830.1:c.*984A>G	ENSP00000509461.1:n.*984A>G
ENST00000693069.1:c.*173A>G	ENSP00000510072.1:n.*173A>G
ENST00000693312.1:c.1014A>G	ENSP00000508686.1:p.Thr338=
ENST00000693664.1:c.1239A>G	ENSP00000509614.1:p.Thr413=
ENST00000693705.1:c.*916A>G	ENSP00000510697.1:n.*916A>G
ENST00000251849.9:c.1239A>G MANE Select	ENSP00000251849.4:p.Thr413=
ENST00000442415.7:c.1299A>G	ENSP00000401888.2:p.Thr433=
ENST00000251849.8:c.1239A>G	ENSP00000251849.4:p.Thr413=
ENST00000423275.5:c.*916A>G	ENSP00000401088.1:n.*916A>G
ENST00000432427.2:c.876A>G	ENSP00000398591.2:p.Thr292=
ENST00000442415.6:c.1299A>G	ENSP00000401888.2:p.Thr433=
ENST00000460610.1:n.196A>G
ENST00000465826.5:n.596A>G
ENST00000475353.1:n.407A>G
ENST00000494557.1:n.255A>G
NM_002880.3:c.1239A>G , LRG_413t1:c.1239A>G	NP_002871.1:p.Thr413=
XM_005265355.1:c.1239A>G	XP_005265412.1:p.Thr413=
XM_005265357.1:c.1140A>G	XP_005265414.1:p.Thr380=
XM_005265358.3:c.996A>G	XP_005265415.1:p.Thr332=
XM_005265359.3:c.897A>G	XP_005265416.1:p.Thr299=
XM_005265360.1:c.1239A>G	XP_005265417.1:p.Thr413=
XM_011533974.1:c.1239A>G	XP_011532276.1:p.Thr413=
XM_011533975.1:c.996A>G	XP_011532277.1:p.Thr332=
NM_001354689.1:c.1299A>G	NP_001341618.1:p.Thr433=
NM_001354690.1:c.1239A>G	NP_001341619.1:p.Thr413=
NM_001354691.1:c.996A>G	NP_001341620.1:p.Thr332=
NM_001354692.1:c.996A>G	NP_001341621.1:p.Thr332=
NM_001354693.1:c.1140A>G	NP_001341622.1:p.Thr380=
NM_001354694.1:c.1056A>G	NP_001341623.1:p.Thr352=
NM_001354695.1:c.897A>G	NP_001341624.1:p.Thr299=
NR_148940.1:n.1767A>G
NR_148941.1:n.1713A>G
NR_148942.1:n.1652A>G
XM_011533974.3:c.1239A>G	XP_011532276.1:p.Thr413=
XM_017006966.1:c.1140A>G	XP_016862455.1:p.Thr380=
NM_001354689.3:c.1299A>G	NP_001341618.1:p.Thr433=
NM_001354690.2:c.1239A>G	NP_001341619.1:p.Thr413=
NM_001354691.2:c.996A>G	NP_001341620.1:p.Thr332=
NM_001354692.2:c.996A>G	NP_001341621.1:p.Thr332=
NM_001354693.2:c.1140A>G	NP_001341622.1:p.Thr380=
NM_001354694.2:c.1056A>G	NP_001341623.1:p.Thr352=
NM_001354695.2:c.897A>G	NP_001341624.1:p.Thr299=
NR_148940.2:n.1683A>G
NR_148941.2:n.1629A>G
NR_148942.2:n.1568A>G
NM_001354690.3:c.1239A>G	NP_001341619.1:p.Thr413=
NM_001354691.3:c.996A>G	NP_001341620.1:p.Thr332=
NM_001354692.3:c.996A>G	NP_001341621.1:p.Thr332=
NM_001354693.3:c.1140A>G	NP_001341622.1:p.Thr380=
NM_001354694.3:c.1056A>G	NP_001341623.1:p.Thr352=
NM_001354695.3:c.897A>G	NP_001341624.1:p.Thr299=
NM_002880.4:c.1239A>G MANE Select	NP_002871.1:p.Thr413=
NR_148940.3:n.1683A>G
NR_148941.3:n.1629A>G
NR_148942.3:n.1568A>G