Canonical Allele Identifier: CA16042578

Gene: BRAF

Linked Data

• ClinVar Variation Id: 372572
• ClinVar RCV Id: RCV000413557 ; RCV000429423 ; RCV000694211 ; RCV000824916 ; RCV002291625
• dbSNP Id: rs121913349
• COSMIC: COSM1448615
• MyVariant Identifiers: chr7:g.140481418C>T (hg19) ; chr7:g.140781618C>T (hg38)
• PubMed: PMID:24918823 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781618C>T , CM000669.2:g.140781618C>T	GRCh38
NC_000007.13:g.140481418C>T , CM000669.1:g.140481418C>T	GRCh37
NC_000007.12:g.140127887C>T	NCBI36
NG_007873.3:g.148147G>A , LRG_299:g.148147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1390G>A MANE Select	ENSP00000493543.1:p.Gly464Arg
ENST00000288602.11:c.1510G>A	ENSP00000288602.7:p.Gly504Arg
ENST00000479537.6:c.60G>A
ENST00000496384.7:c.1390G>A	ENSP00000419060.2:p.Gly464Arg
ENST00000497784.2:c.*840G>A	ENSP00000420119.2:n.*840G>A
ENST00000642228.1:c.*468G>A	ENSP00000493678.1:n.*468G>A
ENST00000642875.1:n.832G>A
ENST00000644120.1:n.1780G>A
ENST00000644650.1:c.486G>A
ENST00000644905.1:n.1479G>A
ENST00000644969.2:c.1510G>A MANE Plus Clinical	ENSP00000496776.1:p.Gly504Arg
ENST00000646334.1:n.520G>A
ENST00000646730.1:c.1390G>A	ENSP00000494784.1:p.Gly464Arg
ENST00000646891.1:c.1390G>A	ENSP00000493543.1:p.Gly464Arg
ENST00000647434.1:c.433G>A	ENSP00000495132.1:p.Gly145Arg
ENST00000288602.10:c.1390G>A	ENSP00000288602.6:p.Gly464Arg
ENST00000496384.6:c.213G>A
ENST00000497784.1:c.1425G>A	ENSP00000420119.1:n.1425G>A
NM_004333.4:c.1390G>A , LRG_299t1:c.1390G>A	NP_004324.2:p.Gly464Arg
XM_005250045.1:c.1390G>A	XP_005250102.1:p.Gly464Arg
XM_005250046.1:c.1390G>A	XP_005250103.1:p.Gly464Arg
XM_011516529.1:c.1390G>A	XP_011514831.1:p.Gly464Arg
XM_011516530.1:c.1390G>A	XP_011514832.1:p.Gly464Arg
XR_242190.1:n.1398G>A
XR_927520.1:n.1398G>A
XR_927521.1:n.1398G>A
XR_927522.1:n.1398G>A
XR_927523.1:n.1398G>A
NM_001354609.1:c.1390G>A	NP_001341538.1:p.Gly464Arg
NM_004333.5:c.1390G>A	NP_004324.2:p.Gly464Arg
NR_148928.1:n.1695G>A
XM_017012558.1:c.1510G>A	XP_016868047.1:p.Gly504Arg
XM_017012559.1:c.1510G>A	XP_016868048.1:p.Gly504Arg
XR_001744857.1:n.1518G>A
XR_001744858.1:n.1518G>A
NM_001354609.2:c.1390G>A	NP_001341538.1:p.Gly464Arg
NM_001374244.1:c.1510G>A	NP_001361173.1:p.Gly504Arg
NM_001374258.1:c.1510G>A MANE Plus Clinical	NP_001361187.1:p.Gly504Arg
NM_004333.6:c.1390G>A MANE Select	NP_004324.2:p.Gly464Arg
NM_001378467.1:c.1399G>A	NP_001365396.1:p.Gly467Arg
NM_001378468.1:c.1390G>A	NP_001365397.1:p.Gly464Arg
NM_001378469.1:c.1324G>A	NP_001365398.1:p.Gly442Arg
NM_001378470.1:c.1288G>A	NP_001365399.1:p.Gly430Arg
NM_001378471.1:c.1279G>A	NP_001365400.1:p.Gly427Arg
NM_001378472.1:c.1234G>A	NP_001365401.1:p.Gly412Arg
NM_001378473.1:c.1234G>A	NP_001365402.1:p.Gly412Arg
NM_001378474.1:c.1390G>A	NP_001365403.1:p.Gly464Arg
NM_001378475.1:c.1126G>A	NP_001365404.1:p.Gly376Arg