Canonical Allele Identifier: CA16042558

Gene: BRAF

Linked Data

• ClinVar Variation Id: 372757
• ClinVar RCV Id: RCV000413430
• dbSNP Id: rs749287111
• MyVariant Identifiers: chr7:g.140453170T>G (hg19) ; chr7:g.140753370T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753370T>G , CM000669.2:g.140753370T>G	GRCh38
NC_000007.13:g.140453170T>G , CM000669.1:g.140453170T>G	GRCh37
NC_000007.12:g.140099639T>G	NCBI36
NG_007873.3:g.176395A>C , LRG_299:g.176395A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1765A>C MANE Select	ENSP00000493543.1:p.Thr589Pro
ENST00000288602.11:c.1885A>C	ENSP00000288602.7:p.Thr629Pro
ENST00000479537.6:c.435A>C
ENST00000496384.7:c.1765A>C	ENSP00000419060.2:p.Thr589Pro
ENST00000497784.2:c.*1215A>C	ENSP00000420119.2:n.*1215A>C
ENST00000642228.1:c.*843A>C	ENSP00000493678.1:n.*843A>C
ENST00000642875.1:n.1259-3952A>C
ENST00000644120.1:n.2155A>C
ENST00000644650.1:c.861A>C
ENST00000644905.1:n.2647A>C
ENST00000644969.2:c.1885A>C MANE Plus Clinical	ENSP00000496776.1:p.Thr629Pro
ENST00000646730.1:c.*341A>C	ENSP00000494784.1:n.*341A>C
ENST00000646891.1:c.1765A>C	ENSP00000493543.1:p.Thr589Pro
ENST00000647434.1:c.738-3952A>C	ENSP00000495132.1:n.738-3952A>C
ENST00000288602.10:c.1765A>C	ENSP00000288602.6:p.Thr589Pro
ENST00000479537.5:c.49A>C	ENSP00000418033.1:p.Thr17Pro
ENST00000496384.6:c.588A>C
ENST00000497784.1:c.1800A>C	ENSP00000420119.1:n.1800A>C
NM_004333.4:c.1765A>C , LRG_299t1:c.1765A>C	NP_004324.2:p.Thr589Pro
XM_005250045.1:c.1765A>C	XP_005250102.1:p.Thr589Pro
XM_005250046.1:c.1765A>C	XP_005250103.1:p.Thr589Pro
XM_011516529.1:c.1765A>C	XP_011514831.1:p.Thr589Pro
XM_011516530.1:c.1695-3952A>C	XP_011514832.1:n.1695-3952A>C
XR_242190.1:n.1773A>C
XR_927520.1:n.1773A>C
XR_927521.1:n.1773A>C
XR_927522.1:n.1703-3952A>C
XR_927523.1:n.1703-3952A>C
NM_001354609.1:c.1765A>C	NP_001341538.1:p.Thr589Pro
NM_004333.5:c.1765A>C	NP_004324.2:p.Thr589Pro
NR_148928.1:n.2863A>C
XM_017012558.1:c.1885A>C	XP_016868047.1:p.Thr629Pro
XM_017012559.1:c.1885A>C	XP_016868048.1:p.Thr629Pro
XR_001744857.1:n.1893A>C
XR_001744858.1:n.1823-3952A>C
NM_001354609.2:c.1765A>C	NP_001341538.1:p.Thr589Pro
NM_001374244.1:c.1885A>C	NP_001361173.1:p.Thr629Pro
NM_001374258.1:c.1885A>C MANE Plus Clinical	NP_001361187.1:p.Thr629Pro
NM_004333.6:c.1765A>C MANE Select	NP_004324.2:p.Thr589Pro
NM_001378467.1:c.1774A>C	NP_001365396.1:p.Thr592Pro
NM_001378468.1:c.1765A>C	NP_001365397.1:p.Thr589Pro
NM_001378469.1:c.1699A>C	NP_001365398.1:p.Thr567Pro
NM_001378470.1:c.1663A>C	NP_001365399.1:p.Thr555Pro
NM_001378471.1:c.1654A>C	NP_001365400.1:p.Thr552Pro
NM_001378472.1:c.1609A>C	NP_001365401.1:p.Thr537Pro
NM_001378473.1:c.1609A>C	NP_001365402.1:p.Thr537Pro
NM_001378474.1:c.1765A>C	NP_001365403.1:p.Thr589Pro
NM_001378475.1:c.1501A>C	NP_001365404.1:p.Thr501Pro