Canonical Allele Identifier: CA4516599

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2152568
• ClinVar RCV Id: RCV003079359
• dbSNP Id: rs201793951
• ExAC: 7:140439729 T / A
• gnomAD v2: 7-140439729-T-A
• gnomAD v3: 7-140739929-T-A
• gnomAD v4: 7-140739929-T-A
• MyVariant Identifiers: chr7:g.140439729T>A (hg19) ; chr7:g.140739929T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739929T>A , CM000669.2:g.140739929T>A	GRCh38
NC_000007.13:g.140439729T>A , CM000669.1:g.140439729T>A	GRCh37
NC_000007.12:g.140086198T>A	NCBI36
NG_007873.3:g.189836A>T , LRG_299:g.189836A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2010A>T MANE Select	ENSP00000493543.1:p.Gly670=
ENST00000288602.11:c.2130A>T	ENSP00000288602.7:p.Gly710=
ENST00000479537.6:c.762A>T
ENST00000496384.7:c.2010A>T	ENSP00000419060.2:p.Gly670=
ENST00000497784.2:c.*1460A>T	ENSP00000420119.2:n.*1460A>T
ENST00000642228.1:c.*1088A>T	ENSP00000493678.1:n.*1088A>T
ENST00000642875.1:n.1408A>T
ENST00000644120.1:n.2400A>T
ENST00000644650.1:c.1309A>T
ENST00000644905.1:n.2892A>T
ENST00000644969.2:c.2130A>T MANE Plus Clinical	ENSP00000496776.1:p.Gly710=
ENST00000645443.1:n.1789A>T
ENST00000646730.1:c.*668A>T	ENSP00000494784.1:n.*668A>T
ENST00000646891.1:c.2010A>T	ENSP00000493543.1:p.Gly670=
ENST00000647434.1:c.887A>T	ENSP00000495132.1:n.887A>T
ENST00000288602.10:c.2010A>T	ENSP00000288602.6:p.Gly670=
ENST00000479537.5:c.376A>T	ENSP00000418033.1:n.376A>T
ENST00000496384.6:c.833A>T
ENST00000497784.1:c.2045A>T	ENSP00000420119.1:n.2045A>T
NM_004333.4:c.2010A>T , LRG_299t1:c.2010A>T	NP_004324.2:p.Gly670=
XM_005250045.1:c.2010A>T	XP_005250102.1:p.Gly670=
XM_005250046.1:c.2010A>T	XP_005250103.1:p.Gly670=
XM_011516529.1:c.2010A>T	XP_011514831.1:p.Gly670=
XR_242190.1:n.2100A>T
XR_927520.1:n.2139A>T
XR_927521.1:n.2221A>T
XR_927522.1:n.1852A>T
XR_927523.1:n.1934A>T
NM_001354609.1:c.2010A>T	NP_001341538.1:p.Gly670=
NM_004333.5:c.2010A>T	NP_004324.2:p.Gly670=
NR_148928.1:n.3108A>T
XM_017012558.1:c.2130A>T	XP_016868047.1:p.Gly710=
XM_017012559.1:c.2130A>T	XP_016868048.1:p.Gly710=
XR_001744857.1:n.2220A>T
XR_001744858.1:n.1972A>T
NM_001354609.2:c.2010A>T	NP_001341538.1:p.Gly670=
NM_001374244.1:c.2130A>T	NP_001361173.1:p.Gly710=
NM_001374258.1:c.2130A>T MANE Plus Clinical	NP_001361187.1:p.Gly710=
NM_004333.6:c.2010A>T MANE Select	NP_004324.2:p.Gly670=
NM_001378467.1:c.2019A>T	NP_001365396.1:p.Gly673=
NM_001378468.1:c.2010A>T	NP_001365397.1:p.Gly670=
NM_001378469.1:c.1944A>T	NP_001365398.1:p.Gly648=
NM_001378470.1:c.1908A>T	NP_001365399.1:p.Gly636=
NM_001378471.1:c.1899A>T	NP_001365400.1:p.Gly633=
NM_001378472.1:c.1854A>T	NP_001365401.1:p.Gly618=
NM_001378473.1:c.1854A>T	NP_001365402.1:p.Gly618=
NM_001378474.1:c.2010A>T	NP_001365403.1:p.Gly670=
NM_001378475.1:c.1746A>T	NP_001365404.1:p.Gly582=