Canonical Allele Identifier: CA369538555

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2700278
• ClinVar RCV Id: RCV003539550
• dbSNP Id: rs2130900960
• MyVariant Identifiers: chr7:g.140439735C>G (hg19) ; chr7:g.140739935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739935C>G , CM000669.2:g.140739935C>G	GRCh38
NC_000007.13:g.140439735C>G , CM000669.1:g.140439735C>G	GRCh37
NC_000007.12:g.140086204C>G	NCBI36
NG_007873.3:g.189830G>C , LRG_299:g.189830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2004G>C MANE Select	ENSP00000493543.1:p.Met668Ile
ENST00000288602.11:c.2124G>C	ENSP00000288602.7:p.Met708Ile
ENST00000479537.6:c.756G>C
ENST00000496384.7:c.2004G>C	ENSP00000419060.2:p.Met668Ile
ENST00000497784.2:c.*1454G>C	ENSP00000420119.2:n.*1454G>C
ENST00000642228.1:c.*1082G>C	ENSP00000493678.1:n.*1082G>C
ENST00000642875.1:n.1402G>C
ENST00000644120.1:n.2394G>C
ENST00000644650.1:c.1303G>C
ENST00000644905.1:n.2886G>C
ENST00000644969.2:c.2124G>C MANE Plus Clinical	ENSP00000496776.1:p.Met708Ile
ENST00000645443.1:n.1783G>C
ENST00000646730.1:c.*662G>C	ENSP00000494784.1:n.*662G>C
ENST00000646891.1:c.2004G>C	ENSP00000493543.1:p.Met668Ile
ENST00000647434.1:c.881G>C	ENSP00000495132.1:n.881G>C
ENST00000288602.10:c.2004G>C	ENSP00000288602.6:p.Met668Ile
ENST00000479537.5:c.370G>C	ENSP00000418033.1:n.370G>C
ENST00000496384.6:c.827G>C
ENST00000497784.1:c.2039G>C	ENSP00000420119.1:n.2039G>C
NM_004333.4:c.2004G>C , LRG_299t1:c.2004G>C	NP_004324.2:p.Met668Ile
XM_005250045.1:c.2004G>C	XP_005250102.1:p.Met668Ile
XM_005250046.1:c.2004G>C	XP_005250103.1:p.Met668Ile
XM_011516529.1:c.2004G>C	XP_011514831.1:p.Met668Ile
XR_242190.1:n.2094G>C
XR_927520.1:n.2133G>C
XR_927521.1:n.2215G>C
XR_927522.1:n.1846G>C
XR_927523.1:n.1928G>C
NM_001354609.1:c.2004G>C	NP_001341538.1:p.Met668Ile
NM_004333.5:c.2004G>C	NP_004324.2:p.Met668Ile
NR_148928.1:n.3102G>C
XM_017012558.1:c.2124G>C	XP_016868047.1:p.Met708Ile
XM_017012559.1:c.2124G>C	XP_016868048.1:p.Met708Ile
XR_001744857.1:n.2214G>C
XR_001744858.1:n.1966G>C
NM_001354609.2:c.2004G>C	NP_001341538.1:p.Met668Ile
NM_001374244.1:c.2124G>C	NP_001361173.1:p.Met708Ile
NM_001374258.1:c.2124G>C MANE Plus Clinical	NP_001361187.1:p.Met708Ile
NM_004333.6:c.2004G>C MANE Select	NP_004324.2:p.Met668Ile
NM_001378467.1:c.2013G>C	NP_001365396.1:p.Met671Ile
NM_001378468.1:c.2004G>C	NP_001365397.1:p.Met668Ile
NM_001378469.1:c.1938G>C	NP_001365398.1:p.Met646Ile
NM_001378470.1:c.1902G>C	NP_001365399.1:p.Met634Ile
NM_001378471.1:c.1893G>C	NP_001365400.1:p.Met631Ile
NM_001378472.1:c.1848G>C	NP_001365401.1:p.Met616Ile
NM_001378473.1:c.1848G>C	NP_001365402.1:p.Met616Ile
NM_001378474.1:c.2004G>C	NP_001365403.1:p.Met668Ile
NM_001378475.1:c.1740G>C	NP_001365404.1:p.Met580Ile