Canonical Allele Identifier: CA280030

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40351
• ClinVar RCV Id: RCV000033288 ; RCV000624665 ; RCV000212151 ; RCV003539764
• dbSNP Id: rs397507469
• COSMIC: COSM6005619
• MyVariant Identifiers: chr7:g.140501303G>T (hg19) ; chr7:g.140801503G>T (hg38)
• PubMed: PMID:4386970 ; PMID:5771505 ; PMID:16523510 ; PMID:16825433 ; PMID:17366577 ; PMID:18039235 ; PMID:18413255 ; PMID:19206169 ; PMID:23875798

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140801503G>T , CM000669.2:g.140801503G>T	GRCh38
NC_000007.13:g.140501303G>T , CM000669.1:g.140501303G>T	GRCh37
NC_000007.12:g.140147772G>T	NCBI36
NG_007873.3:g.128262C>A , LRG_299:g.128262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.769C>A MANE Select	ENSP00000493543.1:p.Gln257Lys
ENST00000288602.11:c.769C>A	ENSP00000288602.7:p.Gln257Lys
ENST00000496384.7:c.769C>A	ENSP00000419060.2:p.Gln257Lys
ENST00000497784.2:c.*219C>A	ENSP00000420119.2:n.*219C>A
ENST00000642228.1:c.769C>A	ENSP00000493678.1:p.Gln257Lys
ENST00000642272.1:n.801C>A
ENST00000642875.1:n.263C>A
ENST00000643356.1:n.370C>A
ENST00000644120.1:n.1211C>A
ENST00000644905.1:n.858C>A
ENST00000644969.2:c.769C>A MANE Plus Clinical	ENSP00000496776.1:p.Gln257Lys
ENST00000646730.1:c.769C>A	ENSP00000494784.1:p.Gln257Lys
ENST00000646891.1:c.769C>A	ENSP00000493543.1:p.Gln257Lys
ENST00000288602.10:c.769C>A	ENSP00000288602.6:p.Gln257Lys
ENST00000497784.1:c.804C>A	ENSP00000420119.1:n.804C>A
NM_004333.4:c.769C>A , LRG_299t1:c.769C>A	NP_004324.2:p.Gln257Lys
XM_005250045.1:c.769C>A	XP_005250102.1:p.Gln257Lys
XM_005250046.1:c.769C>A	XP_005250103.1:p.Gln257Lys
XM_011516529.1:c.769C>A	XP_011514831.1:p.Gln257Lys
XM_011516530.1:c.769C>A	XP_011514832.1:p.Gln257Lys
XR_242190.1:n.777C>A
XR_927520.1:n.777C>A
XR_927521.1:n.777C>A
XR_927522.1:n.777C>A
XR_927523.1:n.777C>A
NM_001354609.1:c.769C>A	NP_001341538.1:p.Gln257Lys
NM_004333.5:c.769C>A	NP_004324.2:p.Gln257Lys
NR_148928.1:n.1074C>A
XM_017012558.1:c.769C>A	XP_016868047.1:p.Gln257Lys
XM_017012559.1:c.769C>A	XP_016868048.1:p.Gln257Lys
XR_001744857.1:n.777C>A
XR_001744858.1:n.777C>A
NM_001354609.2:c.769C>A	NP_001341538.1:p.Gln257Lys
NM_001374244.1:c.769C>A	NP_001361173.1:p.Gln257Lys
NM_001374258.1:c.769C>A MANE Plus Clinical	NP_001361187.1:p.Gln257Lys
NM_004333.6:c.769C>A MANE Select	NP_004324.2:p.Gln257Lys
NM_001378467.1:c.778C>A	NP_001365396.1:p.Gln260Lys
NM_001378468.1:c.769C>A	NP_001365397.1:p.Gln257Lys
NM_001378469.1:c.769C>A	NP_001365398.1:p.Gln257Lys
NM_001378470.1:c.667C>A	NP_001365399.1:p.Gln223Lys
NM_001378471.1:c.769C>A	NP_001365400.1:p.Gln257Lys
NM_001378472.1:c.613C>A	NP_001365401.1:p.Gln205Lys
NM_001378473.1:c.613C>A	NP_001365402.1:p.Gln205Lys
NM_001378474.1:c.769C>A	NP_001365403.1:p.Gln257Lys
NM_001378475.1:c.505C>A	NP_001365404.1:p.Gln169Lys