Canonical Allele Identifier: CA351736

Gene: RAF1

Identifiers and link-outs to other resources

• ClinVar Variation Id: 222774
• ClinVar RCV Id: RCV000208050 ; RCV000494156 ; RCV000617372 ; RCV000696020
• dbSNP Id: rs869025501
• MyVariant Identifiers: chr3:g.12645690G>A (hg19) ; chr3:g.12604191G>A (hg38)
• ERepo: CA351736/MONDO:0021060/004
• PubMed: PMID:15519027 ; PMID:17603483 ; PMID:20679480 ; PMID:24803665

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12604191G>A , CM000665.2:g.12604191G>A	GRCh38
NC_000003.11:g.12645690G>A , CM000665.1:g.12645690G>A	GRCh37
NC_000003.10:g.12620690G>A	NCBI36
NG_007467.1:g.64989C>T , LRG_413:g.64989C>T

Transcript Alleles

HGVS	Amino-acid change
NM_002880.3:c.779C>T , LRG_413t1:c.779C>T	NP_002871.1:p.Thr260Ile
XM_005265355.1:c.779C>T	XP_005265412.1:p.Thr260Ile
XM_005265357.1:c.680C>T	XP_005265414.1:p.Thr227Ile
XM_005265358.3:c.536C>T	XP_005265415.1:p.Thr179Ile
XM_005265359.3:c.437C>T	XP_005265416.1:p.Thr146Ile
XM_005265360.1:c.779C>T	XP_005265417.1:p.Thr260Ile
XM_011533974.1:c.779C>T	XP_011532276.1:p.Thr260Ile
XM_011533975.1:c.536C>T	XP_011532277.1:p.Thr179Ile
NM_001354689.1:c.779C>T VV	NP_001341618.1:p.Thr260Ile
NM_001354690.1:c.779C>T VV	NP_001341619.1:p.Thr260Ile
NM_001354691.1:c.536C>T VV	NP_001341620.1:p.Thr179Ile
NM_001354692.1:c.536C>T VV	NP_001341621.1:p.Thr179Ile
NM_001354693.1:c.680C>T VV	NP_001341622.1:p.Thr227Ile
NM_001354694.1:c.536C>T VV	NP_001341623.1:p.Thr179Ile
NM_001354695.1:c.437C>T VV	NP_001341624.1:p.Thr146Ile
NR_148940.1:n.1194C>T
NR_148941.1:n.1194C>T
NR_148942.1:n.1194C>T
XM_011533974.3:c.779C>T	XP_011532276.1:p.Thr260Ile
XM_017006966.1:c.680C>T	XP_016862455.1:p.Thr227Ile
XR_001740227.1:n.1011C>T
NM_001354689.3:c.779C>T VV MANE Preferred	NP_001341618.1:p.Thr260Ile
NM_001354690.2:c.779C>T VV	NP_001341619.1:p.Thr260Ile
NM_001354691.2:c.536C>T VV	NP_001341620.1:p.Thr179Ile
NM_001354692.2:c.536C>T VV	NP_001341621.1:p.Thr179Ile
NM_001354693.2:c.680C>T VV	NP_001341622.1:p.Thr227Ile
NM_001354694.2:c.536C>T VV	NP_001341623.1:p.Thr179Ile
NM_001354695.2:c.437C>T VV	NP_001341624.1:p.Thr146Ile
NR_148940.2:n.1110C>T
NR_148941.2:n.1110C>T
NR_148942.2:n.1110C>T
NM_001354690.3:c.779C>T VV	NP_001341619.1:p.Thr260Ile
NM_001354691.3:c.536C>T VV	NP_001341620.1:p.Thr179Ile
NM_001354692.3:c.536C>T VV	NP_001341621.1:p.Thr179Ile
NM_001354693.3:c.680C>T VV	NP_001341622.1:p.Thr227Ile
NM_001354694.3:c.536C>T VV	NP_001341623.1:p.Thr179Ile
NM_001354695.3:c.437C>T VV	NP_001341624.1:p.Thr146Ile
NM_002880.4:c.779C>T VV	NP_002871.1:p.Thr260Ile
NR_148940.3:n.1110C>T
NR_148941.3:n.1110C>T
NR_148942.3:n.1110C>T
ENST00000251849.8:c.779C>T	ENSP00000251849.4:p.Thr260Ile
ENST00000416093.1:c.*357C>T	ENSP00000391265.1:p.=
ENST00000423275.5:c.*456C>T	ENSP00000401088.1:p.=
ENST00000432427.2:n.416C>T	ENSP00000398591.2:p.Thr139Ile
ENST00000442415.6:c.779C>T	ENSP00000401888.2:p.Thr260Ile
ENST00000465826.5:n.23C>T
ENST00000491290.1:n.300C>T