Canonical Allele Identifier: CA4516795

Gene: BRAF

Linked Data

• ClinVar Variation Id: 372627
• ClinVar RCV Id: RCV000413389 ; RCV000764691 ; RCV001865287 ; RCV001813468
• dbSNP Id: rs577372072
• ExAC: 7:140487359 C / T
• gnomAD v2: 7-140487359-C-T
• gnomAD v3: 7-140787559-C-T
• gnomAD v4: 7-140787559-C-T
• MyVariant Identifiers: chr7:g.140487359C>T (hg19) ; chr7:g.140787559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140787559C>T , CM000669.2:g.140787559C>T	GRCh38
NC_000007.13:g.140487359C>T , CM000669.1:g.140487359C>T	GRCh37
NC_000007.12:g.140133828C>T	NCBI36
NG_007873.3:g.142206G>A , LRG_299:g.142206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1166G>A MANE Select	ENSP00000493543.1:p.Arg389His
ENST00000288602.11:c.1166G>A	ENSP00000288602.7:p.Arg389His
ENST00000496384.7:c.1166G>A	ENSP00000419060.2:p.Arg389His
ENST00000497784.2:c.*616G>A	ENSP00000420119.2:n.*616G>A
ENST00000642228.1:c.*244G>A	ENSP00000493678.1:n.*244G>A
ENST00000642875.1:n.608G>A
ENST00000644120.1:n.1556G>A
ENST00000644650.1:c.262G>A
ENST00000644905.1:n.1255G>A
ENST00000644969.2:c.1166G>A MANE Plus Clinical	ENSP00000496776.1:p.Arg389His
ENST00000646730.1:c.1166G>A	ENSP00000494784.1:p.Arg389His
ENST00000646891.1:c.1166G>A	ENSP00000493543.1:p.Arg389His
ENST00000647434.1:c.209G>A	ENSP00000495132.1:p.Arg70His
ENST00000288602.10:c.1166G>A	ENSP00000288602.6:p.Arg389His
ENST00000497784.1:c.1201G>A	ENSP00000420119.1:n.1201G>A
NM_004333.4:c.1166G>A , LRG_299t1:c.1166G>A	NP_004324.2:p.Arg389His
XM_005250045.1:c.1166G>A	XP_005250102.1:p.Arg389His
XM_005250046.1:c.1166G>A	XP_005250103.1:p.Arg389His
XM_011516529.1:c.1166G>A	XP_011514831.1:p.Arg389His
XM_011516530.1:c.1166G>A	XP_011514832.1:p.Arg389His
XR_242190.1:n.1174G>A
XR_927520.1:n.1174G>A
XR_927521.1:n.1174G>A
XR_927522.1:n.1174G>A
XR_927523.1:n.1174G>A
NM_001354609.1:c.1166G>A	NP_001341538.1:p.Arg389His
NM_004333.5:c.1166G>A	NP_004324.2:p.Arg389His
NR_148928.1:n.1471G>A
XM_017012558.1:c.1166G>A	XP_016868047.1:p.Arg389His
XM_017012559.1:c.1166G>A	XP_016868048.1:p.Arg389His
XR_001744857.1:n.1174G>A
XR_001744858.1:n.1174G>A
NM_001354609.2:c.1166G>A	NP_001341538.1:p.Arg389His
NM_001374244.1:c.1166G>A	NP_001361173.1:p.Arg389His
NM_001374258.1:c.1166G>A MANE Plus Clinical	NP_001361187.1:p.Arg389His
NM_004333.6:c.1166G>A MANE Select	NP_004324.2:p.Arg389His
NM_001378467.1:c.1175G>A	NP_001365396.1:p.Arg392His
NM_001378468.1:c.1166G>A	NP_001365397.1:p.Arg389His
NM_001378469.1:c.1166G>A	NP_001365398.1:p.Arg389His
NM_001378470.1:c.1064G>A	NP_001365399.1:p.Arg355His
NM_001378471.1:c.1141-4476G>A	NP_001365400.1:n.1141-4476G>A
NM_001378472.1:c.1010G>A	NP_001365401.1:p.Arg337His
NM_001378473.1:c.1010G>A	NP_001365402.1:p.Arg337His
NM_001378474.1:c.1166G>A	NP_001365403.1:p.Arg389His
NM_001378475.1:c.902G>A	NP_001365404.1:p.Arg301His