Canonical Allele Identifier: CA4516864

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2160700
• ClinVar RCV Id: RCV003087701
• dbSNP Id: rs762305547
• ExAC: 7:140500178 C / T
• gnomAD v2: 7-140500178-C-T
• gnomAD v4: 7-140800378-C-T
• MyVariant Identifiers: chr7:g.140500178C>T (hg19) ; chr7:g.140800378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140800378C>T , CM000669.2:g.140800378C>T	GRCh38
NC_000007.13:g.140500178C>T , CM000669.1:g.140500178C>T	GRCh37
NC_000007.12:g.140146647C>T	NCBI36
NG_007873.3:g.129387G>A , LRG_299:g.129387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.964G>A MANE Select	ENSP00000493543.1:p.Ala322Thr
ENST00000288602.11:c.964G>A	ENSP00000288602.7:p.Ala322Thr
ENST00000496384.7:c.964G>A	ENSP00000419060.2:p.Ala322Thr
ENST00000497784.2:c.*414G>A	ENSP00000420119.2:n.*414G>A
ENST00000642228.1:c.*42G>A	ENSP00000493678.1:n.*42G>A
ENST00000642272.1:n.996G>A
ENST00000642875.1:n.458G>A
ENST00000644120.1:n.1406G>A
ENST00000644650.1:c.60G>A
ENST00000644905.1:n.1053G>A
ENST00000644969.2:c.964G>A MANE Plus Clinical	ENSP00000496776.1:p.Ala322Thr
ENST00000646730.1:c.964G>A	ENSP00000494784.1:p.Ala322Thr
ENST00000646891.1:c.964G>A	ENSP00000493543.1:p.Ala322Thr
ENST00000647434.1:c.7G>A	ENSP00000495132.1:p.Ala3Thr
ENST00000288602.10:c.964G>A	ENSP00000288602.6:p.Ala322Thr
ENST00000497784.1:c.999G>A	ENSP00000420119.1:n.999G>A
NM_004333.4:c.964G>A , LRG_299t1:c.964G>A	NP_004324.2:p.Ala322Thr
XM_005250045.1:c.964G>A	XP_005250102.1:p.Ala322Thr
XM_005250046.1:c.964G>A	XP_005250103.1:p.Ala322Thr
XM_011516529.1:c.964G>A	XP_011514831.1:p.Ala322Thr
XM_011516530.1:c.964G>A	XP_011514832.1:p.Ala322Thr
XR_242190.1:n.972G>A
XR_927520.1:n.972G>A
XR_927521.1:n.972G>A
XR_927522.1:n.972G>A
XR_927523.1:n.972G>A
NM_001354609.1:c.964G>A	NP_001341538.1:p.Ala322Thr
NM_004333.5:c.964G>A	NP_004324.2:p.Ala322Thr
NR_148928.1:n.1269G>A
XM_017012558.1:c.964G>A	XP_016868047.1:p.Ala322Thr
XM_017012559.1:c.964G>A	XP_016868048.1:p.Ala322Thr
XR_001744857.1:n.972G>A
XR_001744858.1:n.972G>A
NM_001354609.2:c.964G>A	NP_001341538.1:p.Ala322Thr
NM_001374244.1:c.964G>A	NP_001361173.1:p.Ala322Thr
NM_001374258.1:c.964G>A MANE Plus Clinical	NP_001361187.1:p.Ala322Thr
NM_004333.6:c.964G>A MANE Select	NP_004324.2:p.Ala322Thr
NM_001378467.1:c.973G>A	NP_001365396.1:p.Ala325Thr
NM_001378468.1:c.964G>A	NP_001365397.1:p.Ala322Thr
NM_001378469.1:c.964G>A	NP_001365398.1:p.Ala322Thr
NM_001378470.1:c.862G>A	NP_001365399.1:p.Ala288Thr
NM_001378471.1:c.964G>A	NP_001365400.1:p.Ala322Thr
NM_001378472.1:c.808G>A	NP_001365401.1:p.Ala270Thr
NM_001378473.1:c.808G>A	NP_001365402.1:p.Ala270Thr
NM_001378474.1:c.964G>A	NP_001365403.1:p.Ala322Thr
NM_001378475.1:c.700G>A	NP_001365404.1:p.Ala234Thr