Canonical Allele Identifier: CA168090546
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 2501901
ClinVar RCV Id: RCV003228320
dbSNP Id: rs121913353
COSMIC: COSM1112

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781612C>G , CM000669.2:g.140781612C>G GRCh38
NC_000007.13:g.140481412C>G , CM000669.1:g.140481412C>G GRCh37
NC_000007.12:g.140127881C>G NCBI36
NG_007873.3:g.148153G>C , LRG_299:g.148153G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.1396G>C MANE Select ENSP00000493543.1:p.Gly466Arg
ENST00000288602.11:c.1516G>C ENSP00000288602.7:p.Gly506Arg
ENST00000479537.6:c.66G>C
ENST00000496384.7:c.1396G>C ENSP00000419060.2:p.Gly466Arg
ENST00000497784.2:c.*846G>C ENSP00000420119.2:n.*846G>C
ENST00000642228.1:c.*474G>C ENSP00000493678.1:n.*474G>C
ENST00000642875.1:n.838G>C
ENST00000644120.1:n.1786G>C
ENST00000644650.1:c.492G>C
ENST00000644905.1:n.1485G>C
ENST00000644969.2:c.1516G>C MANE Plus Clinical ENSP00000496776.1:p.Gly506Arg
ENST00000646334.1:n.526G>C
ENST00000646730.1:c.1396G>C ENSP00000494784.1:p.Gly466Arg
ENST00000646891.1:c.1396G>C ENSP00000493543.1:p.Gly466Arg
ENST00000647434.1:c.439G>C ENSP00000495132.1:p.Gly147Arg
ENST00000288602.10:c.1396G>C ENSP00000288602.6:p.Gly466Arg
ENST00000496384.6:c.219G>C
ENST00000497784.1:c.1431G>C ENSP00000420119.1:n.1431G>C
NM_004333.4:c.1396G>C , LRG_299t1:c.1396G>C NP_004324.2:p.Gly466Arg
XM_005250045.1:c.1396G>C XP_005250102.1:p.Gly466Arg
XM_005250046.1:c.1396G>C XP_005250103.1:p.Gly466Arg
XM_011516529.1:c.1396G>C XP_011514831.1:p.Gly466Arg
XM_011516530.1:c.1396G>C XP_011514832.1:p.Gly466Arg
XR_242190.1:n.1404G>C
XR_927520.1:n.1404G>C
XR_927521.1:n.1404G>C
XR_927522.1:n.1404G>C
XR_927523.1:n.1404G>C
NM_001354609.1:c.1396G>C NP_001341538.1:p.Gly466Arg
NM_004333.5:c.1396G>C NP_004324.2:p.Gly466Arg
NR_148928.1:n.1701G>C
XM_017012558.1:c.1516G>C XP_016868047.1:p.Gly506Arg
XM_017012559.1:c.1516G>C XP_016868048.1:p.Gly506Arg
XR_001744857.1:n.1524G>C
XR_001744858.1:n.1524G>C
NM_001354609.2:c.1396G>C NP_001341538.1:p.Gly466Arg
NM_001374244.1:c.1516G>C NP_001361173.1:p.Gly506Arg
NM_001374258.1:c.1516G>C MANE Plus Clinical NP_001361187.1:p.Gly506Arg
NM_004333.6:c.1396G>C MANE Select NP_004324.2:p.Gly466Arg
NM_001378467.1:c.1405G>C NP_001365396.1:p.Gly469Arg
NM_001378468.1:c.1396G>C NP_001365397.1:p.Gly466Arg
NM_001378469.1:c.1330G>C NP_001365398.1:p.Gly444Arg
NM_001378470.1:c.1294G>C NP_001365399.1:p.Gly432Arg
NM_001378471.1:c.1285G>C NP_001365400.1:p.Gly429Arg
NM_001378472.1:c.1240G>C NP_001365401.1:p.Gly414Arg
NM_001378473.1:c.1240G>C NP_001365402.1:p.Gly414Arg
NM_001378474.1:c.1396G>C NP_001365403.1:p.Gly466Arg
NM_001378475.1:c.1132G>C NP_001365404.1:p.Gly378Arg