Canonical Allele Identifier: CA369537958

Gene: BRAF

Linked Data

• dbSNP Id: rs2130899315
• MyVariant Identifiers: chr7:g.140439631T>C (hg19) ; chr7:g.140739831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739831T>C , CM000669.2:g.140739831T>C	GRCh38
NC_000007.13:g.140439631T>C , CM000669.1:g.140439631T>C	GRCh37
NC_000007.12:g.140086100T>C	NCBI36
NG_007873.3:g.189934A>G , LRG_299:g.189934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2108A>G MANE Select	ENSP00000493543.1:p.Glu703Gly
ENST00000288602.11:c.2228A>G	ENSP00000288602.7:p.Glu743Gly
ENST00000479537.6:c.860A>G
ENST00000496384.7:c.2108A>G	ENSP00000419060.2:p.Glu703Gly
ENST00000497784.2:c.*1558A>G	ENSP00000420119.2:n.*1558A>G
ENST00000642228.1:c.*1186A>G	ENSP00000493678.1:n.*1186A>G
ENST00000642875.1:n.1506A>G
ENST00000644120.1:n.2498A>G
ENST00000644650.1:c.1407A>G
ENST00000644905.1:n.2990A>G
ENST00000644969.2:c.2228A>G MANE Plus Clinical	ENSP00000496776.1:p.Glu743Gly
ENST00000645443.1:n.1887A>G
ENST00000646730.1:c.*766A>G	ENSP00000494784.1:n.*766A>G
ENST00000646891.1:c.2108A>G	ENSP00000493543.1:p.Glu703Gly
ENST00000647434.1:c.985A>G	ENSP00000495132.1:n.985A>G
ENST00000288602.10:c.2108A>G	ENSP00000288602.6:p.Glu703Gly
ENST00000479537.5:c.474A>G	ENSP00000418033.1:n.474A>G
ENST00000496384.6:c.931A>G
ENST00000497784.1:c.2143A>G	ENSP00000420119.1:n.2143A>G
NM_004333.4:c.2108A>G , LRG_299t1:c.2108A>G	NP_004324.2:p.Glu703Gly
XM_005250045.1:c.2108A>G	XP_005250102.1:p.Glu703Gly
XM_005250046.1:c.2108A>G	XP_005250103.1:p.Glu703Gly
XM_011516529.1:c.2108A>G	XP_011514831.1:p.Glu703Gly
XR_242190.1:n.2198A>G
XR_927520.1:n.2237A>G
XR_927521.1:n.2319A>G
XR_927522.1:n.1950A>G
XR_927523.1:n.2032A>G
NM_001354609.1:c.2108A>G	NP_001341538.1:p.Glu703Gly
NM_004333.5:c.2108A>G	NP_004324.2:p.Glu703Gly
NR_148928.1:n.3206A>G
XM_017012558.1:c.2228A>G	XP_016868047.1:p.Glu743Gly
XM_017012559.1:c.2228A>G	XP_016868048.1:p.Glu743Gly
XR_001744857.1:n.2318A>G
XR_001744858.1:n.2070A>G
NM_001354609.2:c.2108A>G	NP_001341538.1:p.Glu703Gly
NM_001374244.1:c.2228A>G	NP_001361173.1:p.Glu743Gly
NM_001374258.1:c.2228A>G MANE Plus Clinical	NP_001361187.1:p.Glu743Gly
NM_004333.6:c.2108A>G MANE Select	NP_004324.2:p.Glu703Gly
NM_001378467.1:c.2117A>G	NP_001365396.1:p.Glu706Gly
NM_001378468.1:c.2108A>G	NP_001365397.1:p.Glu703Gly
NM_001378469.1:c.2042A>G	NP_001365398.1:p.Glu681Gly
NM_001378470.1:c.2006A>G	NP_001365399.1:p.Glu669Gly
NM_001378471.1:c.1997A>G	NP_001365400.1:p.Glu666Gly
NM_001378472.1:c.1952A>G	NP_001365401.1:p.Glu651Gly
NM_001378473.1:c.1952A>G	NP_001365402.1:p.Glu651Gly
NM_001378474.1:c.2108A>G	NP_001365403.1:p.Glu703Gly
NM_001378475.1:c.1844A>G	NP_001365404.1:p.Glu615Gly