Canonical Allele Identifier: CA281986

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40384
• ClinVar RCV Id: RCV000033328 ; RCV000677114 ; RCV000824924 ; RCV001265848
• dbSNP Id: rs397507481
• MyVariant Identifiers: chr7:g.140454006G>C (hg19) ; chr7:g.140754206G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140754206G>C , CM000669.2:g.140754206G>C	GRCh38
NC_000007.13:g.140454006G>C , CM000669.1:g.140454006G>C	GRCh37
NC_000007.12:g.140100475G>C	NCBI36
NG_007873.3:g.175559C>G , LRG_299:g.175559C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1722C>G MANE Select	ENSP00000493543.1:p.His574Gln
ENST00000288602.11:c.1842C>G	ENSP00000288602.7:p.His614Gln
ENST00000479537.6:c.392C>G
ENST00000496384.7:c.1722C>G	ENSP00000419060.2:p.His574Gln
ENST00000497784.2:c.*1172C>G	ENSP00000420119.2:n.*1172C>G
ENST00000642228.1:c.*800C>G	ENSP00000493678.1:n.*800C>G
ENST00000642875.1:n.1259-4788C>G
ENST00000644120.1:n.2112C>G
ENST00000644650.1:c.818C>G
ENST00000644905.1:n.1811C>G
ENST00000644969.2:c.1842C>G MANE Plus Clinical	ENSP00000496776.1:p.His614Gln
ENST00000646730.1:c.*298C>G	ENSP00000494784.1:n.*298C>G
ENST00000646891.1:c.1722C>G	ENSP00000493543.1:p.His574Gln
ENST00000647434.1:c.738-4788C>G	ENSP00000495132.1:n.738-4788C>G
ENST00000288602.10:c.1722C>G	ENSP00000288602.6:p.His574Gln
ENST00000479537.5:c.6C>G	ENSP00000418033.1:p.His2Gln
ENST00000496384.6:c.545C>G
ENST00000497784.1:c.1757C>G	ENSP00000420119.1:n.1757C>G
NM_004333.4:c.1722C>G , LRG_299t1:c.1722C>G	NP_004324.2:p.His574Gln
XM_005250045.1:c.1722C>G	XP_005250102.1:p.His574Gln
XM_005250046.1:c.1722C>G	XP_005250103.1:p.His574Gln
XM_011516529.1:c.1722C>G	XP_011514831.1:p.His574Gln
XM_011516530.1:c.1695-4788C>G	XP_011514832.1:n.1695-4788C>G
XR_242190.1:n.1730C>G
XR_927520.1:n.1730C>G
XR_927521.1:n.1730C>G
XR_927522.1:n.1703-4788C>G
XR_927523.1:n.1703-4788C>G
NM_001354609.1:c.1722C>G	NP_001341538.1:p.His574Gln
NM_004333.5:c.1722C>G	NP_004324.2:p.His574Gln
NR_148928.1:n.2027C>G
XM_017012558.1:c.1842C>G	XP_016868047.1:p.His614Gln
XM_017012559.1:c.1842C>G	XP_016868048.1:p.His614Gln
XR_001744857.1:n.1850C>G
XR_001744858.1:n.1823-4788C>G
NM_001354609.2:c.1722C>G	NP_001341538.1:p.His574Gln
NM_001374244.1:c.1842C>G	NP_001361173.1:p.His614Gln
NM_001374258.1:c.1842C>G MANE Plus Clinical	NP_001361187.1:p.His614Gln
NM_004333.6:c.1722C>G MANE Select	NP_004324.2:p.His574Gln
NM_001378467.1:c.1731C>G	NP_001365396.1:p.His577Gln
NM_001378468.1:c.1722C>G	NP_001365397.1:p.His574Gln
NM_001378469.1:c.1656C>G	NP_001365398.1:p.His552Gln
NM_001378470.1:c.1620C>G	NP_001365399.1:p.His540Gln
NM_001378471.1:c.1611C>G	NP_001365400.1:p.His537Gln
NM_001378472.1:c.1566C>G	NP_001365401.1:p.His522Gln
NM_001378473.1:c.1566C>G	NP_001365402.1:p.His522Gln
NM_001378474.1:c.1722C>G	NP_001365403.1:p.His574Gln
NM_001378475.1:c.1458C>G	NP_001365404.1:p.His486Gln