Canonical Allele Identifier: CA273127

Gene: BRAF

Linked Data

• ClinVar Variation Id: 162795
• ClinVar RCV Id: RCV000150197 ; RCV000788373 ; RCV000824929 ; RCV001374414 ; RCV001850036 ; RCV003224801
• dbSNP Id: rs727502904
• MyVariant Identifiers: chr7:g.140434563G>T (hg19) ; chr7:g.140734763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140734763G>T , CM000669.2:g.140734763G>T	GRCh38
NC_000007.13:g.140434563G>T , CM000669.1:g.140434563G>T	GRCh37
NC_000007.12:g.140081032G>T	NCBI36
NG_007873.3:g.195002C>A , LRG_299:g.195002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2135C>A MANE Select	ENSP00000493543.1:p.Ala712Asp
ENST00000288602.11:c.2255C>A	ENSP00000288602.7:p.Ala752Asp
ENST00000479537.6:c.887C>A
ENST00000496384.7:c.2135C>A	ENSP00000419060.2:p.Ala712Asp
ENST00000497784.2:c.*1585C>A	ENSP00000420119.2:n.*1585C>A
ENST00000642228.1:c.*1213C>A	ENSP00000493678.1:n.*1213C>A
ENST00000642875.1:n.1533C>A
ENST00000644120.1:n.2517+5049C>A
ENST00000644650.1:c.1434C>A
ENST00000644905.1:n.3017C>A
ENST00000644969.2:c.2255C>A MANE Plus Clinical	ENSP00000496776.1:p.Ala752Asp
ENST00000645443.1:n.1914C>A
ENST00000646730.1:c.*793C>A	ENSP00000494784.1:n.*793C>A
ENST00000646891.1:c.2135C>A	ENSP00000493543.1:p.Ala712Asp
ENST00000647434.1:c.1012C>A	ENSP00000495132.1:n.1012C>A
ENST00000288602.10:c.2135C>A	ENSP00000288602.6:p.Ala712Asp
ENST00000479537.5:c.501C>A	ENSP00000418033.1:n.501C>A
ENST00000496384.6:c.958C>A
ENST00000497784.1:c.2170C>A	ENSP00000420119.1:n.2170C>A
NM_004333.4:c.2135C>A , LRG_299t1:c.2135C>A	NP_004324.2:p.Ala712Asp
XM_005250045.1:c.2135C>A	XP_005250102.1:p.Ala712Asp
XM_005250046.1:c.2127+5049C>A	XP_005250103.1:n.2127+5049C>A
XM_011516529.1:c.2127+5049C>A	XP_011514831.1:n.2127+5049C>A
XR_242190.1:n.2225C>A
XR_927520.1:n.2264C>A
XR_927521.1:n.2346C>A
XR_927522.1:n.1977C>A
XR_927523.1:n.2059C>A
NM_001354609.1:c.2135C>A	NP_001341538.1:p.Ala712Asp
NM_004333.5:c.2135C>A	NP_004324.2:p.Ala712Asp
NR_148928.1:n.3233C>A
XM_017012558.1:c.2255C>A	XP_016868047.1:p.Ala752Asp
XM_017012559.1:c.2247+5049C>A	XP_016868048.1:n.2247+5049C>A
XR_001744857.1:n.2345C>A
XR_001744858.1:n.2097C>A
NM_001354609.2:c.2135C>A	NP_001341538.1:p.Ala712Asp
NM_001374244.1:c.2255C>A	NP_001361173.1:p.Ala752Asp
NM_001374258.1:c.2255C>A MANE Plus Clinical	NP_001361187.1:p.Ala752Asp
NM_004333.6:c.2135C>A MANE Select	NP_004324.2:p.Ala712Asp
NM_001378467.1:c.2144C>A	NP_001365396.1:p.Ala715Asp
NM_001378468.1:c.2127+5049C>A	NP_001365397.1:n.2127+5049C>A
NM_001378469.1:c.2069C>A	NP_001365398.1:p.Ala690Asp
NM_001378470.1:c.2033C>A	NP_001365399.1:p.Ala678Asp
NM_001378471.1:c.2024C>A	NP_001365400.1:p.Ala675Asp
NM_001378472.1:c.1979C>A	NP_001365401.1:p.Ala660Asp
NM_001378473.1:c.1979C>A	NP_001365402.1:p.Ala660Asp
NM_001378474.1:c.2127+5049C>A	NP_001365403.1:n.2127+5049C>A
NM_001378475.1:c.1871C>A	NP_001365404.1:p.Ala624Asp