Canonical Allele Identifier: CA135116

Gene: BRAF

Linked Data

• ClinVar Variation Id: 44823
• ClinVar RCV Id: RCV002415472 ; RCV002496605
• dbSNP Id: rs377165711
• ExAC: 7:140434562 G / A
• gnomAD v2: 7-140434562-G-A
• gnomAD v3: 7-140734762-G-A
• gnomAD v4: 7-140734762-G-A
• MyVariant Identifiers: chr7:g.140434562G>A (hg19) ; chr7:g.140734762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140734762G>A , CM000669.2:g.140734762G>A	GRCh38
NC_000007.13:g.140434562G>A , CM000669.1:g.140434562G>A	GRCh37
NC_000007.12:g.140081031G>A	NCBI36
NG_007873.3:g.195003C>T , LRG_299:g.195003C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.2136C>T MANE Select	ENSP00000493543.1:p.Ala712=
ENST00000288602.11:c.2256C>T	ENSP00000288602.7:p.Ala752=
ENST00000479537.6:c.888C>T
ENST00000496384.7:c.2136C>T	ENSP00000419060.2:p.Ala712=
ENST00000497784.2:c.*1586C>T	ENSP00000420119.2:n.*1586C>T
ENST00000642228.1:c.*1214C>T	ENSP00000493678.1:n.*1214C>T
ENST00000642875.1:n.1534C>T
ENST00000644120.1:n.2517+5050C>T
ENST00000644650.1:c.1435C>T
ENST00000644905.1:n.3018C>T
ENST00000644969.2:c.2256C>T MANE Plus Clinical	ENSP00000496776.1:p.Ala752=
ENST00000645443.1:n.1915C>T
ENST00000646730.1:c.*794C>T	ENSP00000494784.1:n.*794C>T
ENST00000646891.1:c.2136C>T	ENSP00000493543.1:p.Ala712=
ENST00000647434.1:c.1013C>T	ENSP00000495132.1:n.1013C>T
ENST00000288602.10:c.2136C>T	ENSP00000288602.6:p.Ala712=
ENST00000479537.5:c.502C>T	ENSP00000418033.1:n.502C>T
ENST00000496384.6:c.959C>T
ENST00000497784.1:c.2171C>T	ENSP00000420119.1:n.2171C>T
NM_004333.4:c.2136C>T , LRG_299t1:c.2136C>T	NP_004324.2:p.Ala712=
XM_005250045.1:c.2136C>T	XP_005250102.1:p.Ala712=
XM_005250046.1:c.2127+5050C>T	XP_005250103.1:n.2127+5050C>T
XM_011516529.1:c.2127+5050C>T	XP_011514831.1:n.2127+5050C>T
XR_242190.1:n.2226C>T
XR_927520.1:n.2265C>T
XR_927521.1:n.2347C>T
XR_927522.1:n.1978C>T
XR_927523.1:n.2060C>T
NM_001354609.1:c.2136C>T	NP_001341538.1:p.Ala712=
NM_004333.5:c.2136C>T	NP_004324.2:p.Ala712=
NR_148928.1:n.3234C>T
XM_017012558.1:c.2256C>T	XP_016868047.1:p.Ala752=
XM_017012559.1:c.2247+5050C>T	XP_016868048.1:n.2247+5050C>T
XR_001744857.1:n.2346C>T
XR_001744858.1:n.2098C>T
NM_001354609.2:c.2136C>T	NP_001341538.1:p.Ala712=
NM_001374244.1:c.2256C>T	NP_001361173.1:p.Ala752=
NM_001374258.1:c.2256C>T MANE Plus Clinical	NP_001361187.1:p.Ala752=
NM_004333.6:c.2136C>T MANE Select	NP_004324.2:p.Ala712=
NM_001378467.1:c.2145C>T	NP_001365396.1:p.Ala715=
NM_001378468.1:c.2127+5050C>T	NP_001365397.1:n.2127+5050C>T
NM_001378469.1:c.2070C>T	NP_001365398.1:p.Ala690=
NM_001378470.1:c.2034C>T	NP_001365399.1:p.Ala678=
NM_001378471.1:c.2025C>T	NP_001365400.1:p.Ala675=
NM_001378472.1:c.1980C>T	NP_001365401.1:p.Ala660=
NM_001378473.1:c.1980C>T	NP_001365402.1:p.Ala660=
NM_001378474.1:c.2127+5050C>T	NP_001365403.1:n.2127+5050C>T
NM_001378475.1:c.1872C>T	NP_001365404.1:p.Ala624=