Canonical Allele Identifier: CA369537954

Gene: BRAF

Linked Data

• gnomAD v4: 7-140739830-C-A
• MyVariant Identifiers: chr7:g.140439630C>A (hg19) ; chr7:g.140739830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739830C>A , CM000669.2:g.140739830C>A	GRCh38
NC_000007.13:g.140439630C>A , CM000669.1:g.140439630C>A	GRCh37
NC_000007.12:g.140086099C>A	NCBI36
NG_007873.3:g.189935G>T , LRG_299:g.189935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2109G>T MANE Select	ENSP00000493543.1:p.Glu703Asp
ENST00000288602.11:c.2229G>T	ENSP00000288602.7:p.Glu743Asp
ENST00000479537.6:c.861G>T
ENST00000496384.7:c.2109G>T	ENSP00000419060.2:p.Glu703Asp
ENST00000497784.2:c.*1559G>T	ENSP00000420119.2:n.*1559G>T
ENST00000642228.1:c.*1187G>T	ENSP00000493678.1:n.*1187G>T
ENST00000642875.1:n.1507G>T
ENST00000644120.1:n.2499G>T
ENST00000644650.1:c.1408G>T
ENST00000644905.1:n.2991G>T
ENST00000644969.2:c.2229G>T MANE Plus Clinical	ENSP00000496776.1:p.Glu743Asp
ENST00000645443.1:n.1888G>T
ENST00000646730.1:c.*767G>T	ENSP00000494784.1:n.*767G>T
ENST00000646891.1:c.2109G>T	ENSP00000493543.1:p.Glu703Asp
ENST00000647434.1:c.986G>T	ENSP00000495132.1:n.986G>T
ENST00000288602.10:c.2109G>T	ENSP00000288602.6:p.Glu703Asp
ENST00000479537.5:c.475G>T	ENSP00000418033.1:n.475G>T
ENST00000496384.6:c.932G>T
ENST00000497784.1:c.2144G>T	ENSP00000420119.1:n.2144G>T
NM_004333.4:c.2109G>T , LRG_299t1:c.2109G>T	NP_004324.2:p.Glu703Asp
XM_005250045.1:c.2109G>T	XP_005250102.1:p.Glu703Asp
XM_005250046.1:c.2109G>T	XP_005250103.1:p.Glu703Asp
XM_011516529.1:c.2109G>T	XP_011514831.1:p.Glu703Asp
XR_242190.1:n.2199G>T
XR_927520.1:n.2238G>T
XR_927521.1:n.2320G>T
XR_927522.1:n.1951G>T
XR_927523.1:n.2033G>T
NM_001354609.1:c.2109G>T	NP_001341538.1:p.Glu703Asp
NM_004333.5:c.2109G>T	NP_004324.2:p.Glu703Asp
NR_148928.1:n.3207G>T
XM_017012558.1:c.2229G>T	XP_016868047.1:p.Glu743Asp
XM_017012559.1:c.2229G>T	XP_016868048.1:p.Glu743Asp
XR_001744857.1:n.2319G>T
XR_001744858.1:n.2071G>T
NM_001354609.2:c.2109G>T	NP_001341538.1:p.Glu703Asp
NM_001374244.1:c.2229G>T	NP_001361173.1:p.Glu743Asp
NM_001374258.1:c.2229G>T MANE Plus Clinical	NP_001361187.1:p.Glu743Asp
NM_004333.6:c.2109G>T MANE Select	NP_004324.2:p.Glu703Asp
NM_001378467.1:c.2118G>T	NP_001365396.1:p.Glu706Asp
NM_001378468.1:c.2109G>T	NP_001365397.1:p.Glu703Asp
NM_001378469.1:c.2043G>T	NP_001365398.1:p.Glu681Asp
NM_001378470.1:c.2007G>T	NP_001365399.1:p.Glu669Asp
NM_001378471.1:c.1998G>T	NP_001365400.1:p.Glu666Asp
NM_001378472.1:c.1953G>T	NP_001365401.1:p.Glu651Asp
NM_001378473.1:c.1953G>T	NP_001365402.1:p.Glu651Asp
NM_001378474.1:c.2109G>T	NP_001365403.1:p.Glu703Asp
NM_001378475.1:c.1845G>T	NP_001365404.1:p.Glu615Asp