Canonical Allele Identifier: CA369588179
Gene: BRAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140777016C>A , CM000669.2:g.140777016C>A GRCh38
NC_000007.13:g.140476816C>A , CM000669.1:g.140476816C>A GRCh37
NC_000007.12:g.140123285C>A NCBI36
NG_007873.3:g.152749G>T , LRG_299:g.152749G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1590G>T MANE Select ENSP00000493543.1:p.Gln530His
ENST00000288602.11:c.1710G>T ENSP00000288602.7:p.Gln570His
ENST00000479537.6:c.260G>T
ENST00000496384.7:c.1590G>T ENSP00000419060.2:p.Gln530His
ENST00000497784.2:c.*1040G>T ENSP00000420119.2:n.*1040G>T
ENST00000642228.1:c.*668G>T ENSP00000493678.1:n.*668G>T
ENST00000642875.1:n.1154G>T
ENST00000644120.1:n.1980G>T
ENST00000644650.1:c.686G>T
ENST00000644905.1:n.1679G>T
ENST00000644969.2:c.1710G>T MANE Plus Clinical ENSP00000496776.1:p.Gln570His
ENST00000646730.1:c.1590G>T ENSP00000494784.1:p.Gln530His
ENST00000646891.1:c.1590G>T ENSP00000493543.1:p.Gln530His
ENST00000647434.1:c.633G>T ENSP00000495132.1:p.Gln211His
ENST00000288602.10:c.1590G>T ENSP00000288602.6:p.Gln530His
ENST00000496384.6:c.413G>T
ENST00000497784.1:c.1625G>T ENSP00000420119.1:n.1625G>T
NM_004333.4:c.1590G>T , LRG_299t1:c.1590G>T NP_004324.2:p.Gln530His
XM_005250045.1:c.1590G>T XP_005250102.1:p.Gln530His
XM_005250046.1:c.1590G>T XP_005250103.1:p.Gln530His
XM_011516529.1:c.1590G>T XP_011514831.1:p.Gln530His
XM_011516530.1:c.1590G>T XP_011514832.1:p.Gln530His
XR_242190.1:n.1598G>T
XR_927520.1:n.1598G>T
XR_927521.1:n.1598G>T
XR_927522.1:n.1598G>T
XR_927523.1:n.1598G>T
NM_001354609.1:c.1590G>T NP_001341538.1:p.Gln530His
NM_004333.5:c.1590G>T NP_004324.2:p.Gln530His
NR_148928.1:n.1895G>T
XM_017012558.1:c.1710G>T XP_016868047.1:p.Gln570His
XM_017012559.1:c.1710G>T XP_016868048.1:p.Gln570His
XR_001744857.1:n.1718G>T
XR_001744858.1:n.1718G>T
NM_001354609.2:c.1590G>T NP_001341538.1:p.Gln530His
NM_001374244.1:c.1710G>T NP_001361173.1:p.Gln570His
NM_001374258.1:c.1710G>T MANE Plus Clinical NP_001361187.1:p.Gln570His
NM_004333.6:c.1590G>T MANE Select NP_004324.2:p.Gln530His
NM_001378467.1:c.1599G>T NP_001365396.1:p.Gln533His
NM_001378468.1:c.1590G>T NP_001365397.1:p.Gln530His
NM_001378469.1:c.1524G>T NP_001365398.1:p.Gln508His
NM_001378470.1:c.1488G>T NP_001365399.1:p.Gln496His
NM_001378471.1:c.1479G>T NP_001365400.1:p.Gln493His
NM_001378472.1:c.1434G>T NP_001365401.1:p.Gln478His
NM_001378473.1:c.1434G>T NP_001365402.1:p.Gln478His
NM_001378474.1:c.1590G>T NP_001365403.1:p.Gln530His
NM_001378475.1:c.1326G>T NP_001365404.1:p.Gln442His