Canonical Allele Identifier: CA123643
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 13961
ClinVar RCV Id: RCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000080903 RCV000037936 RCV000067669 RCV000208763 RCV000420614 RCV000425847 RCV000429915 RCV000440802 RCV000425166 RCV000430562 RCV000443745 RCV000433305 RCV000435441 RCV000440540 RCV000443448 RCV000417746 RCV000424470 RCV000432628 RCV000662278 RCV000860020 RCV001030023 RCV001248834 RCV001254874 RCV002051586 RCV004018627 RCV003458334
dbSNP Id: rs113488022
ExAC: 7:140453136 A / T
gnomAD v2: 7-140453136-A-T
gnomAD v4: 7-140753336-A-T
COSMIC: COSM476
MyVariant Identifiers: chr7:g.140453136A>T (hg19) chr7:g.140753336A>T (hg38)
CIViC: CA123643
PubMed: PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14679157 PMID:15035987 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20301365 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:25024077 PMID:25157968 PMID:25370471 PMID:25989278 PMID:26619011 PMID:26678033
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753336A>T , CM000669.2:g.140753336A>T GRCh38
NC_000007.13:g.140453136A>T , CM000669.1:g.140453136A>T GRCh37
NC_000007.12:g.140099605A>T NCBI36
NG_007873.3:g.176429T>A , LRG_299:g.176429T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1799T>A MANE Select ENSP00000493543.1:p.Val600Glu
ENST00000288602.11:c.1919T>A ENSP00000288602.7:p.Val640Glu
ENST00000479537.6:c.469T>A
ENST00000496384.7:c.1799T>A ENSP00000419060.2:p.Val600Glu
ENST00000497784.2:c.*1249T>A ENSP00000420119.2:n.*1249T>A
ENST00000642228.1:c.*877T>A ENSP00000493678.1:n.*877T>A
ENST00000642875.1:n.1259-3918T>A
ENST00000644120.1:n.2189T>A
ENST00000644650.1:c.895T>A
ENST00000644905.1:n.2681T>A
ENST00000644969.2:c.1919T>A MANE Plus Clinical ENSP00000496776.1:p.Val640Glu
ENST00000646730.1:c.*375T>A ENSP00000494784.1:n.*375T>A
ENST00000646891.1:c.1799T>A ENSP00000493543.1:p.Val600Glu
ENST00000647434.1:c.738-3918T>A ENSP00000495132.1:n.738-3918T>A
ENST00000288602.10:c.1799T>A ENSP00000288602.6:p.Val600Glu
ENST00000479537.5:c.83T>A ENSP00000418033.1:p.Val28Glu
ENST00000496384.6:c.622T>A
ENST00000497784.1:c.1834T>A ENSP00000420119.1:n.1834T>A
NM_004333.4:c.1799T>A , LRG_299t1:c.1799T>A NP_004324.2:p.Val600Glu
XM_005250045.1:c.1799T>A XP_005250102.1:p.Val600Glu
XM_005250046.1:c.1799T>A XP_005250103.1:p.Val600Glu
XM_011516529.1:c.1799T>A XP_011514831.1:p.Val600Glu
XM_011516530.1:c.1695-3918T>A XP_011514832.1:n.1695-3918T>A
XR_242190.1:n.1807T>A
XR_927520.1:n.1807T>A
XR_927521.1:n.1807T>A
XR_927522.1:n.1703-3918T>A
XR_927523.1:n.1703-3918T>A
NM_001354609.1:c.1799T>A NP_001341538.1:p.Val600Glu
NM_004333.5:c.1799T>A NP_004324.2:p.Val600Glu
NR_148928.1:n.2897T>A
XM_017012558.1:c.1919T>A XP_016868047.1:p.Val640Glu
XM_017012559.1:c.1919T>A XP_016868048.1:p.Val640Glu
XR_001744857.1:n.1927T>A
XR_001744858.1:n.1823-3918T>A
NM_001354609.2:c.1799T>A NP_001341538.1:p.Val600Glu
NM_001374244.1:c.1919T>A NP_001361173.1:p.Val640Glu
NM_001374258.1:c.1919T>A MANE Plus Clinical NP_001361187.1:p.Val640Glu
NM_004333.6:c.1799T>A MANE Select NP_004324.2:p.Val600Glu
NM_001378467.1:c.1808T>A NP_001365396.1:p.Val603Glu
NM_001378468.1:c.1799T>A NP_001365397.1:p.Val600Glu
NM_001378469.1:c.1733T>A NP_001365398.1:p.Val578Glu
NM_001378470.1:c.1697T>A NP_001365399.1:p.Val566Glu
NM_001378471.1:c.1688T>A NP_001365400.1:p.Val563Glu
NM_001378472.1:c.1643T>A NP_001365401.1:p.Val548Glu
NM_001378473.1:c.1643T>A NP_001365402.1:p.Val548Glu
NM_001378474.1:c.1799T>A NP_001365403.1:p.Val600Glu
NM_001378475.1:c.1535T>A NP_001365404.1:p.Val512Glu
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