Canonical Allele Identifier: CA369543182
Gene: BRAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753361T>A , CM000669.2:g.140753361T>A GRCh38
NC_000007.13:g.140453161T>A , CM000669.1:g.140453161T>A GRCh37
NC_000007.12:g.140099630T>A NCBI36
NG_007873.3:g.176404A>T , LRG_299:g.176404A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1774A>T MANE Select ENSP00000493543.1:p.Ile592Leu
ENST00000288602.11:c.1894A>T ENSP00000288602.7:p.Ile632Leu
ENST00000479537.6:c.444A>T
ENST00000496384.7:c.1774A>T ENSP00000419060.2:p.Ile592Leu
ENST00000497784.2:c.*1224A>T ENSP00000420119.2:n.*1224A>T
ENST00000642228.1:c.*852A>T ENSP00000493678.1:n.*852A>T
ENST00000642875.1:n.1259-3943A>T
ENST00000644120.1:n.2164A>T
ENST00000644650.1:c.870A>T
ENST00000644905.1:n.2656A>T
ENST00000644969.2:c.1894A>T MANE Plus Clinical ENSP00000496776.1:p.Ile632Leu
ENST00000646730.1:c.*350A>T ENSP00000494784.1:n.*350A>T
ENST00000646891.1:c.1774A>T ENSP00000493543.1:p.Ile592Leu
ENST00000647434.1:c.738-3943A>T ENSP00000495132.1:n.738-3943A>T
ENST00000288602.10:c.1774A>T ENSP00000288602.6:p.Ile592Leu
ENST00000479537.5:c.58A>T ENSP00000418033.1:p.Ile20Leu
ENST00000496384.6:c.597A>T
ENST00000497784.1:c.1809A>T ENSP00000420119.1:n.1809A>T
NM_004333.4:c.1774A>T , LRG_299t1:c.1774A>T NP_004324.2:p.Ile592Leu
XM_005250045.1:c.1774A>T XP_005250102.1:p.Ile592Leu
XM_005250046.1:c.1774A>T XP_005250103.1:p.Ile592Leu
XM_011516529.1:c.1774A>T XP_011514831.1:p.Ile592Leu
XM_011516530.1:c.1695-3943A>T XP_011514832.1:n.1695-3943A>T
XR_242190.1:n.1782A>T
XR_927520.1:n.1782A>T
XR_927521.1:n.1782A>T
XR_927522.1:n.1703-3943A>T
XR_927523.1:n.1703-3943A>T
NM_001354609.1:c.1774A>T NP_001341538.1:p.Ile592Leu
NM_004333.5:c.1774A>T NP_004324.2:p.Ile592Leu
NR_148928.1:n.2872A>T
XM_017012558.1:c.1894A>T XP_016868047.1:p.Ile632Leu
XM_017012559.1:c.1894A>T XP_016868048.1:p.Ile632Leu
XR_001744857.1:n.1902A>T
XR_001744858.1:n.1823-3943A>T
NM_001354609.2:c.1774A>T NP_001341538.1:p.Ile592Leu
NM_001374244.1:c.1894A>T NP_001361173.1:p.Ile632Leu
NM_001374258.1:c.1894A>T MANE Plus Clinical NP_001361187.1:p.Ile632Leu
NM_004333.6:c.1774A>T MANE Select NP_004324.2:p.Ile592Leu
NM_001378467.1:c.1783A>T NP_001365396.1:p.Ile595Leu
NM_001378468.1:c.1774A>T NP_001365397.1:p.Ile592Leu
NM_001378469.1:c.1708A>T NP_001365398.1:p.Ile570Leu
NM_001378470.1:c.1672A>T NP_001365399.1:p.Ile558Leu
NM_001378471.1:c.1663A>T NP_001365400.1:p.Ile555Leu
NM_001378472.1:c.1618A>T NP_001365401.1:p.Ile540Leu
NM_001378473.1:c.1618A>T NP_001365402.1:p.Ile540Leu
NM_001378474.1:c.1774A>T NP_001365403.1:p.Ile592Leu
NM_001378475.1:c.1510A>T NP_001365404.1:p.Ile504Leu