Canonical Allele Identifier: CA4516860
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 424419
dbSNP Id: rs368435578
COSMIC: COSM33964

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140800365A>G , CM000669.2:g.140800365A>G GRCh38
NC_000007.13:g.140500165A>G , CM000669.1:g.140500165A>G GRCh37
NC_000007.12:g.140146634A>G NCBI36
NG_007873.3:g.129400T>C , LRG_299:g.129400T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646891.2:c.977T>C MANE Select ENSP00000493543.1:p.Ile326Thr
ENST00000288602.11:c.977T>C ENSP00000288602.7:p.Ile326Thr
ENST00000496384.7:c.977T>C ENSP00000419060.2:p.Ile326Thr
ENST00000497784.2:c.*427T>C ENSP00000420119.2:n.*427T>C
ENST00000642228.1:c.*55T>C ENSP00000493678.1:n.*55T>C
ENST00000642272.1:n.1009T>C
ENST00000642875.1:n.471T>C
ENST00000644120.1:n.1419T>C
ENST00000644650.1:c.73T>C
ENST00000644905.1:n.1066T>C
ENST00000644969.2:c.977T>C MANE Plus Clinical ENSP00000496776.1:p.Ile326Thr
ENST00000646730.1:c.977T>C ENSP00000494784.1:p.Ile326Thr
ENST00000646891.1:c.977T>C ENSP00000493543.1:p.Ile326Thr
ENST00000647434.1:c.20T>C ENSP00000495132.1:p.Ile7Thr
ENST00000288602.10:c.977T>C ENSP00000288602.6:p.Ile326Thr
ENST00000497784.1:c.1012T>C ENSP00000420119.1:n.1012T>C
NM_004333.4:c.977T>C , LRG_299t1:c.977T>C NP_004324.2:p.Ile326Thr
XM_005250045.1:c.977T>C XP_005250102.1:p.Ile326Thr
XM_005250046.1:c.977T>C XP_005250103.1:p.Ile326Thr
XM_011516529.1:c.977T>C XP_011514831.1:p.Ile326Thr
XM_011516530.1:c.977T>C XP_011514832.1:p.Ile326Thr
XR_242190.1:n.985T>C
XR_927520.1:n.985T>C
XR_927521.1:n.985T>C
XR_927522.1:n.985T>C
XR_927523.1:n.985T>C
NM_001354609.1:c.977T>C NP_001341538.1:p.Ile326Thr
NM_004333.5:c.977T>C NP_004324.2:p.Ile326Thr
NR_148928.1:n.1282T>C
XM_017012558.1:c.977T>C XP_016868047.1:p.Ile326Thr
XM_017012559.1:c.977T>C XP_016868048.1:p.Ile326Thr
XR_001744857.1:n.985T>C
XR_001744858.1:n.985T>C
NM_001354609.2:c.977T>C NP_001341538.1:p.Ile326Thr
NM_001374244.1:c.977T>C NP_001361173.1:p.Ile326Thr
NM_001374258.1:c.977T>C MANE Plus Clinical NP_001361187.1:p.Ile326Thr
NM_004333.6:c.977T>C MANE Select NP_004324.2:p.Ile326Thr
NM_001378467.1:c.986T>C NP_001365396.1:p.Ile329Thr
NM_001378468.1:c.977T>C NP_001365397.1:p.Ile326Thr
NM_001378469.1:c.977T>C NP_001365398.1:p.Ile326Thr
NM_001378470.1:c.875T>C NP_001365399.1:p.Ile292Thr
NM_001378471.1:c.977T>C NP_001365400.1:p.Ile326Thr
NM_001378472.1:c.821T>C NP_001365401.1:p.Ile274Thr
NM_001378473.1:c.821T>C NP_001365402.1:p.Ile274Thr
NM_001378474.1:c.977T>C NP_001365403.1:p.Ile326Thr
NM_001378475.1:c.713T>C NP_001365404.1:p.Ile238Thr