Canonical Allele Identifier: CA432273166

Gene: RAF1

Linked Data

• ClinVar Variation Id: 1547053
• ClinVar RCV Id: RCV002173262
• dbSNP Id: rs1294314820
• gnomAD v2: 3-12632419-G-A
• gnomAD v4: 3-12590920-G-A
• MyVariant Identifiers: chr3:g.12632419G>A (hg19) ; chr3:g.12590920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12590920G>A , CM000665.2:g.12590920G>A	GRCh38
NC_000003.11:g.12632419G>A , CM000665.1:g.12632419G>A	GRCh37
NC_000003.10:g.12607419G>A	NCBI36
NG_007467.1:g.78260C>T , LRG_413:g.78260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*913C>T	ENSP00000401088.1:n.*913C>T
ENST00000432427.3:c.565C>T
ENST00000460610.2:n.42C>T
ENST00000465826.6:n.839C>T
ENST00000475353.2:n.1170C>T
ENST00000494557.2:n.1059C>T
ENST00000684903.1:c.*925C>T	ENSP00000508612.1:n.*925C>T
ENST00000685348.1:c.*925C>T	ENSP00000510285.1:n.*925C>T
ENST00000685437.1:c.1149C>T	ENSP00000508794.1:p.Asn383=
ENST00000685653.1:c.1248C>T	ENSP00000509968.1:p.Asn416=
ENST00000685738.1:c.*212C>T	ENSP00000510156.1:n.*212C>T
ENST00000686409.1:n.2299C>T
ENST00000686455.1:n.1611C>T
ENST00000686762.1:c.1248C>T	ENSP00000509767.1:p.Asn416=
ENST00000687257.1:n.1484C>T
ENST00000687326.1:c.*182C>T	ENSP00000509665.1:n.*182C>T
ENST00000687505.1:n.1366C>T
ENST00000687923.1:c.1137C>T	ENSP00000510255.1:p.Asn379=
ENST00000687940.1:n.1625C>T
ENST00000688269.1:n.1844C>T
ENST00000688326.1:c.681C>T
ENST00000688444.1:n.1574C>T
ENST00000688543.1:c.1149C>T	ENSP00000509612.1:p.Asn383=
ENST00000688625.1:c.*826C>T	ENSP00000509522.1:n.*826C>T
ENST00000688803.1:n.1479C>T
ENST00000688914.1:n.234C>T
ENST00000689097.1:c.*925C>T	ENSP00000509756.1:n.*925C>T
ENST00000689389.1:c.1193+788C>T	ENSP00000510213.1:n.1193+788C>T
ENST00000689418.1:c.*925C>T	ENSP00000509467.1:n.*925C>T
ENST00000689481.1:c.*925C>T	ENSP00000510248.1:n.*925C>T
ENST00000689540.1:n.1398C>T
ENST00000689876.1:c.1248C>T	ENSP00000508535.1:p.Asn416=
ENST00000689914.1:c.*182C>T	ENSP00000509847.1:n.*182C>T
ENST00000690397.1:c.1137C>T	ENSP00000508730.1:p.Asn379=
ENST00000690460.1:c.1236C>T	ENSP00000509106.1:p.Asn412=
ENST00000690585.1:c.140C>T
ENST00000690625.1:n.2284C>T
ENST00000691396.1:c.*1100C>T	ENSP00000510712.1:n.*1100C>T
ENST00000691724.1:c.*205C>T	ENSP00000509255.1:n.*205C>T
ENST00000691779.1:c.*826C>T	ENSP00000508592.1:n.*826C>T
ENST00000691888.1:c.140C>T
ENST00000691899.1:c.1248C>T	ENSP00000508763.1:p.Asn416=
ENST00000692069.1:n.1814C>T
ENST00000692093.1:c.1149C>T	ENSP00000509669.1:p.Asn383=
ENST00000692311.1:n.2072C>T
ENST00000692558.1:n.1613C>T
ENST00000692773.1:c.*985C>T	ENSP00000509055.1:n.*985C>T
ENST00000692830.1:c.*993C>T	ENSP00000509461.1:n.*993C>T
ENST00000693069.1:c.*182C>T	ENSP00000510072.1:n.*182C>T
ENST00000693312.1:c.1023C>T	ENSP00000508686.1:p.Asn341=
ENST00000693664.1:c.1248C>T	ENSP00000509614.1:p.Asn416=
ENST00000693705.1:c.*925C>T	ENSP00000510697.1:n.*925C>T
ENST00000251849.9:c.1248C>T MANE Select	ENSP00000251849.4:p.Asn416=
ENST00000442415.7:c.1308C>T	ENSP00000401888.2:p.Asn436=
ENST00000251849.8:c.1248C>T	ENSP00000251849.4:p.Asn416=
ENST00000423275.5:c.*925C>T	ENSP00000401088.1:n.*925C>T
ENST00000432427.2:c.885C>T	ENSP00000398591.2:p.Asn295=
ENST00000442415.6:c.1308C>T	ENSP00000401888.2:p.Asn436=
ENST00000460610.1:n.205C>T
ENST00000465826.5:n.605C>T
ENST00000475353.1:n.416C>T
ENST00000494557.1:n.264C>T
NM_002880.3:c.1248C>T , LRG_413t1:c.1248C>T	NP_002871.1:p.Asn416=
XM_005265355.1:c.1248C>T	XP_005265412.1:p.Asn416=
XM_005265357.1:c.1149C>T	XP_005265414.1:p.Asn383=
XM_005265358.3:c.1005C>T	XP_005265415.1:p.Asn335=
XM_005265359.3:c.906C>T	XP_005265416.1:p.Asn302=
XM_005265360.1:c.1248C>T	XP_005265417.1:p.Asn416=
XM_011533974.1:c.1248C>T	XP_011532276.1:p.Asn416=
XM_011533975.1:c.1005C>T	XP_011532277.1:p.Asn335=
NM_001354689.1:c.1308C>T	NP_001341618.1:p.Asn436=
NM_001354690.1:c.1248C>T	NP_001341619.1:p.Asn416=
NM_001354691.1:c.1005C>T	NP_001341620.1:p.Asn335=
NM_001354692.1:c.1005C>T	NP_001341621.1:p.Asn335=
NM_001354693.1:c.1149C>T	NP_001341622.1:p.Asn383=
NM_001354694.1:c.1065C>T	NP_001341623.1:p.Asn355=
NM_001354695.1:c.906C>T	NP_001341624.1:p.Asn302=
NR_148940.1:n.1776C>T
NR_148941.1:n.1722C>T
NR_148942.1:n.1661C>T
XM_011533974.3:c.1248C>T	XP_011532276.1:p.Asn416=
XM_017006966.1:c.1149C>T	XP_016862455.1:p.Asn383=
NM_001354689.3:c.1308C>T	NP_001341618.1:p.Asn436=
NM_001354690.2:c.1248C>T	NP_001341619.1:p.Asn416=
NM_001354691.2:c.1005C>T	NP_001341620.1:p.Asn335=
NM_001354692.2:c.1005C>T	NP_001341621.1:p.Asn335=
NM_001354693.2:c.1149C>T	NP_001341622.1:p.Asn383=
NM_001354694.2:c.1065C>T	NP_001341623.1:p.Asn355=
NM_001354695.2:c.906C>T	NP_001341624.1:p.Asn302=
NR_148940.2:n.1692C>T
NR_148941.2:n.1638C>T
NR_148942.2:n.1577C>T
NM_001354690.3:c.1248C>T	NP_001341619.1:p.Asn416=
NM_001354691.3:c.1005C>T	NP_001341620.1:p.Asn335=
NM_001354692.3:c.1005C>T	NP_001341621.1:p.Asn335=
NM_001354693.3:c.1149C>T	NP_001341622.1:p.Asn383=
NM_001354694.3:c.1065C>T	NP_001341623.1:p.Asn355=
NM_001354695.3:c.906C>T	NP_001341624.1:p.Asn302=
NM_002880.4:c.1248C>T MANE Select	NP_002871.1:p.Asn416=
NR_148940.3:n.1692C>T
NR_148941.3:n.1638C>T
NR_148942.3:n.1577C>T