Canonical Allele Identifier: CA457987012
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1779930
ClinVar RCV Id: RCV002404039
MyVariant Identifiers: chr7:g.140453156A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753356A>G , CM000669.2:g.140753356A>G GRCh38
NC_000007.13:g.140453156A>G , CM000669.1:g.140453156A>G GRCh37
NC_000007.12:g.140099625A>G NCBI36
NG_007873.3:g.176409T>C , LRG_299:g.176409T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1779T>C MANE Select ENSP00000493543.1:p.Gly593=
ENST00000288602.11:c.1899T>C ENSP00000288602.7:p.Gly633=
ENST00000479537.6:c.449T>C
ENST00000496384.7:c.1779T>C ENSP00000419060.2:p.Gly593=
ENST00000497784.2:c.*1229T>C ENSP00000420119.2:n.*1229T>C
ENST00000642228.1:c.*857T>C ENSP00000493678.1:n.*857T>C
ENST00000642875.1:n.1259-3938T>C
ENST00000644120.1:n.2169T>C
ENST00000644650.1:c.875T>C
ENST00000644905.1:n.2661T>C
ENST00000644969.2:c.1899T>C MANE Plus Clinical ENSP00000496776.1:p.Gly633=
ENST00000646730.1:c.*355T>C ENSP00000494784.1:n.*355T>C
ENST00000646891.1:c.1779T>C ENSP00000493543.1:p.Gly593=
ENST00000647434.1:c.738-3938T>C ENSP00000495132.1:n.738-3938T>C
ENST00000288602.10:c.1779T>C ENSP00000288602.6:p.Gly593=
ENST00000479537.5:c.63T>C ENSP00000418033.1:p.Gly21=
ENST00000496384.6:c.602T>C
ENST00000497784.1:c.1814T>C ENSP00000420119.1:n.1814T>C
NM_004333.4:c.1779T>C , LRG_299t1:c.1779T>C NP_004324.2:p.Gly593=
XM_005250045.1:c.1779T>C XP_005250102.1:p.Gly593=
XM_005250046.1:c.1779T>C XP_005250103.1:p.Gly593=
XM_011516529.1:c.1779T>C XP_011514831.1:p.Gly593=
XM_011516530.1:c.1695-3938T>C XP_011514832.1:n.1695-3938T>C
XR_242190.1:n.1787T>C
XR_927520.1:n.1787T>C
XR_927521.1:n.1787T>C
XR_927522.1:n.1703-3938T>C
XR_927523.1:n.1703-3938T>C
NM_001354609.1:c.1779T>C NP_001341538.1:p.Gly593=
NM_004333.5:c.1779T>C NP_004324.2:p.Gly593=
NR_148928.1:n.2877T>C
XM_017012558.1:c.1899T>C XP_016868047.1:p.Gly633=
XM_017012559.1:c.1899T>C XP_016868048.1:p.Gly633=
XR_001744857.1:n.1907T>C
XR_001744858.1:n.1823-3938T>C
NM_001354609.2:c.1779T>C NP_001341538.1:p.Gly593=
NM_001374244.1:c.1899T>C NP_001361173.1:p.Gly633=
NM_001374258.1:c.1899T>C MANE Plus Clinical NP_001361187.1:p.Gly633=
NM_004333.6:c.1779T>C MANE Select NP_004324.2:p.Gly593=
NM_001378467.1:c.1788T>C NP_001365396.1:p.Gly596=
NM_001378468.1:c.1779T>C NP_001365397.1:p.Gly593=
NM_001378469.1:c.1713T>C NP_001365398.1:p.Gly571=
NM_001378470.1:c.1677T>C NP_001365399.1:p.Gly559=
NM_001378471.1:c.1668T>C NP_001365400.1:p.Gly556=
NM_001378472.1:c.1623T>C NP_001365401.1:p.Gly541=
NM_001378473.1:c.1623T>C NP_001365402.1:p.Gly541=
NM_001378474.1:c.1779T>C NP_001365403.1:p.Gly593=
NM_001378475.1:c.1515T>C NP_001365404.1:p.Gly505=