Canonical Allele Identifier: CA281992
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 40386
ClinVar RCV Id: RCV000033331
dbSNP Id: rs55939351

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753360A>G , CM000669.2:g.140753360A>G GRCh38
NC_000007.13:g.140453160A>G , CM000669.1:g.140453160A>G GRCh37
NC_000007.12:g.140099629A>G NCBI36
NG_007873.3:g.176405T>C , LRG_299:g.176405T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000288602.11:c.1895T>C ENSP00000288602.7:p.Ile632Thr
ENST00000479537.6:n.445T>C
ENST00000496384.7:c.1775T>C ENSP00000419060.2:p.Ile592Thr
ENST00000497784.2:c.*1225T>C ENSP00000420119.2:p.=
ENST00000642228.1:c.*853T>C ENSP00000493678.1:p.=
ENST00000642875.1:n.1259-3942T>C
ENST00000644120.1:n.2165T>C
ENST00000644650.1:n.871T>C
ENST00000644905.1:n.2657T>C
ENST00000644969.2:c.1895T>C MANE Select ENSP00000496776.1:p.Ile632Thr
ENST00000646730.1:c.*351T>C ENSP00000494784.1:p.=
ENST00000646891.1:c.1775T>C ENSP00000493543.1:p.Ile592Thr
ENST00000647434.1:n.738-3942T>C ENSP00000495132.1:p.=
ENST00000288602.10:c.1775T>C ENSP00000288602.6:p.Ile592Thr
ENST00000479537.5:n.59T>C ENSP00000418033.1:p.Ile20Thr
ENST00000496384.6:n.598T>C
ENST00000497784.1:n.1810T>C ENSP00000420119.1:p.=
NM_004333.4:c.1775T>C , LRG_299t1:c.1775T>C NP_004324.2:p.Ile592Thr
XM_005250045.1:c.1775T>C XP_005250102.1:p.Ile592Thr
XM_005250046.1:c.1775T>C XP_005250103.1:p.Ile592Thr
XM_011516529.1:c.1775T>C XP_011514831.1:p.Ile592Thr
XM_011516530.1:c.1695-3942T>C XP_011514832.1:p.=
XR_242190.1:n.1783T>C
XR_927520.1:n.1783T>C
XR_927521.1:n.1783T>C
XR_927522.1:n.1703-3942T>C
XR_927523.1:n.1703-3942T>C
NM_001354609.1:c.1775T>C NP_001341538.1:p.Ile592Thr
NM_004333.5:c.1775T>C NP_004324.2:p.Ile592Thr
NR_148928.1:n.2873T>C
XM_017012558.1:c.1895T>C XP_016868047.1:p.Ile632Thr
XM_017012559.1:c.1895T>C XP_016868048.1:p.Ile632Thr
XR_001744857.1:n.1903T>C
XR_001744858.1:n.1823-3942T>C
NM_001354609.2:c.1775T>C NP_001341538.1:p.Ile592Thr
NM_001374244.1:c.1895T>C NP_001361173.1:p.Ile632Thr
NM_001374258.1:c.1895T>C MANE Select NP_001361187.1:p.Ile632Thr
NM_004333.6:c.1775T>C NP_004324.2:p.Ile592Thr
NM_001378467.1:c.1784T>C NP_001365396.1:p.Ile595Thr
NM_001378468.1:c.1775T>C NP_001365397.1:p.Ile592Thr
NM_001378469.1:c.1709T>C NP_001365398.1:p.Ile570Thr
NM_001378470.1:c.1673T>C NP_001365399.1:p.Ile558Thr
NM_001378471.1:c.1664T>C NP_001365400.1:p.Ile555Thr
NM_001378472.1:c.1619T>C NP_001365401.1:p.Ile540Thr
NM_001378473.1:c.1619T>C NP_001365402.1:p.Ile540Thr
NM_001378474.1:c.1775T>C NP_001365403.1:p.Ile592Thr
NM_001378475.1:c.1511T>C NP_001365404.1:p.Ile504Thr