Canonical Allele Identifier: CA281974

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40371
• ClinVar RCV Id: RCV000207509 ; RCV001814021
• dbSNP Id: rs397507476
• MyVariant Identifiers: chr7:g.140477811T>G (hg19) ; chr7:g.140778011T>G (hg38)
• PubMed: PMID:16474404 ; PMID:18042262 ; PMID:19206169

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778011T>G , CM000669.2:g.140778011T>G	GRCh38
NC_000007.13:g.140477811T>G , CM000669.1:g.140477811T>G	GRCh37
NC_000007.12:g.140124280T>G	NCBI36
NG_007873.3:g.151754A>C , LRG_299:g.151754A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1497A>C MANE Select	ENSP00000493543.1:p.Lys499Asn
ENST00000288602.11:c.1617A>C	ENSP00000288602.7:p.Lys539Asn
ENST00000479537.6:c.167A>C
ENST00000496384.7:c.1497A>C	ENSP00000419060.2:p.Lys499Asn
ENST00000497784.2:c.*947A>C	ENSP00000420119.2:n.*947A>C
ENST00000642228.1:c.*575A>C	ENSP00000493678.1:n.*575A>C
ENST00000642875.1:n.1061A>C
ENST00000644120.1:n.1887A>C
ENST00000644650.1:c.593A>C
ENST00000644905.1:n.1586A>C
ENST00000644969.2:c.1617A>C MANE Plus Clinical	ENSP00000496776.1:p.Lys539Asn
ENST00000646730.1:c.1497A>C	ENSP00000494784.1:p.Lys499Asn
ENST00000646891.1:c.1497A>C	ENSP00000493543.1:p.Lys499Asn
ENST00000647434.1:c.540A>C	ENSP00000495132.1:p.Lys180Asn
ENST00000288602.10:c.1497A>C	ENSP00000288602.6:p.Lys499Asn
ENST00000496384.6:c.320A>C
ENST00000497784.1:c.1532A>C	ENSP00000420119.1:n.1532A>C
NM_004333.4:c.1497A>C , LRG_299t1:c.1497A>C	NP_004324.2:p.Lys499Asn
XM_005250045.1:c.1497A>C	XP_005250102.1:p.Lys499Asn
XM_005250046.1:c.1497A>C	XP_005250103.1:p.Lys499Asn
XM_011516529.1:c.1497A>C	XP_011514831.1:p.Lys499Asn
XM_011516530.1:c.1497A>C	XP_011514832.1:p.Lys499Asn
XR_242190.1:n.1505A>C
XR_927520.1:n.1505A>C
XR_927521.1:n.1505A>C
XR_927522.1:n.1505A>C
XR_927523.1:n.1505A>C
NM_001354609.1:c.1497A>C	NP_001341538.1:p.Lys499Asn
NM_004333.5:c.1497A>C	NP_004324.2:p.Lys499Asn
NR_148928.1:n.1802A>C
XM_017012558.1:c.1617A>C	XP_016868047.1:p.Lys539Asn
XM_017012559.1:c.1617A>C	XP_016868048.1:p.Lys539Asn
XR_001744857.1:n.1625A>C
XR_001744858.1:n.1625A>C
NM_001354609.2:c.1497A>C	NP_001341538.1:p.Lys499Asn
NM_001374244.1:c.1617A>C	NP_001361173.1:p.Lys539Asn
NM_001374258.1:c.1617A>C MANE Plus Clinical	NP_001361187.1:p.Lys539Asn
NM_004333.6:c.1497A>C MANE Select	NP_004324.2:p.Lys499Asn
NM_001378467.1:c.1506A>C	NP_001365396.1:p.Lys502Asn
NM_001378468.1:c.1497A>C	NP_001365397.1:p.Lys499Asn
NM_001378469.1:c.1431A>C	NP_001365398.1:p.Lys477Asn
NM_001378470.1:c.1395A>C	NP_001365399.1:p.Lys465Asn
NM_001378471.1:c.1386A>C	NP_001365400.1:p.Lys462Asn
NM_001378472.1:c.1341A>C	NP_001365401.1:p.Lys447Asn
NM_001378473.1:c.1341A>C	NP_001365402.1:p.Lys447Asn
NM_001378474.1:c.1497A>C	NP_001365403.1:p.Lys499Asn
NM_001378475.1:c.1233A>C	NP_001365404.1:p.Lys411Asn