Canonical Allele Identifier: CA369538550

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2231382
• ClinVar RCV Id: RCV002722757
• dbSNP Id: rs2130900936
• gnomAD v4: 7-140739934-C-T
• MyVariant Identifiers: chr7:g.140439734C>T (hg19) ; chr7:g.140739934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739934C>T , CM000669.2:g.140739934C>T	GRCh38
NC_000007.13:g.140439734C>T , CM000669.1:g.140439734C>T	GRCh37
NC_000007.12:g.140086203C>T	NCBI36
NG_007873.3:g.189831G>A , LRG_299:g.189831G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.2005G>A MANE Select	ENSP00000493543.1:p.Val669Met
ENST00000288602.11:c.2125G>A	ENSP00000288602.7:p.Val709Met
ENST00000479537.6:c.757G>A
ENST00000496384.7:c.2005G>A	ENSP00000419060.2:p.Val669Met
ENST00000497784.2:c.*1455G>A	ENSP00000420119.2:n.*1455G>A
ENST00000642228.1:c.*1083G>A	ENSP00000493678.1:n.*1083G>A
ENST00000642875.1:n.1403G>A
ENST00000644120.1:n.2395G>A
ENST00000644650.1:c.1304G>A
ENST00000644905.1:n.2887G>A
ENST00000644969.2:c.2125G>A MANE Plus Clinical	ENSP00000496776.1:p.Val709Met
ENST00000645443.1:n.1784G>A
ENST00000646730.1:c.*663G>A	ENSP00000494784.1:n.*663G>A
ENST00000646891.1:c.2005G>A	ENSP00000493543.1:p.Val669Met
ENST00000647434.1:c.882G>A	ENSP00000495132.1:n.882G>A
ENST00000288602.10:c.2005G>A	ENSP00000288602.6:p.Val669Met
ENST00000479537.5:c.371G>A	ENSP00000418033.1:n.371G>A
ENST00000496384.6:c.828G>A
ENST00000497784.1:c.2040G>A	ENSP00000420119.1:n.2040G>A
NM_004333.4:c.2005G>A , LRG_299t1:c.2005G>A	NP_004324.2:p.Val669Met
XM_005250045.1:c.2005G>A	XP_005250102.1:p.Val669Met
XM_005250046.1:c.2005G>A	XP_005250103.1:p.Val669Met
XM_011516529.1:c.2005G>A	XP_011514831.1:p.Val669Met
XR_242190.1:n.2095G>A
XR_927520.1:n.2134G>A
XR_927521.1:n.2216G>A
XR_927522.1:n.1847G>A
XR_927523.1:n.1929G>A
NM_001354609.1:c.2005G>A	NP_001341538.1:p.Val669Met
NM_004333.5:c.2005G>A	NP_004324.2:p.Val669Met
NR_148928.1:n.3103G>A
XM_017012558.1:c.2125G>A	XP_016868047.1:p.Val709Met
XM_017012559.1:c.2125G>A	XP_016868048.1:p.Val709Met
XR_001744857.1:n.2215G>A
XR_001744858.1:n.1967G>A
NM_001354609.2:c.2005G>A	NP_001341538.1:p.Val669Met
NM_001374244.1:c.2125G>A	NP_001361173.1:p.Val709Met
NM_001374258.1:c.2125G>A MANE Plus Clinical	NP_001361187.1:p.Val709Met
NM_004333.6:c.2005G>A MANE Select	NP_004324.2:p.Val669Met
NM_001378467.1:c.2014G>A	NP_001365396.1:p.Val672Met
NM_001378468.1:c.2005G>A	NP_001365397.1:p.Val669Met
NM_001378469.1:c.1939G>A	NP_001365398.1:p.Val647Met
NM_001378470.1:c.1903G>A	NP_001365399.1:p.Val635Met
NM_001378471.1:c.1894G>A	NP_001365400.1:p.Val632Met
NM_001378472.1:c.1849G>A	NP_001365401.1:p.Val617Met
NM_001378473.1:c.1849G>A	NP_001365402.1:p.Val617Met
NM_001378474.1:c.2005G>A	NP_001365403.1:p.Val669Met
NM_001378475.1:c.1741G>A	NP_001365404.1:p.Val581Met