Canonical Allele Identifier: CA250634
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 13963
ClinVar RCV Id: RCV000014996
dbSNP Id: rs180177033
COSMIC: COSM448

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140781620A>C , CM000669.2:g.140781620A>C GRCh38
NC_000007.13:g.140481420A>C , CM000669.1:g.140481420A>C GRCh37
NC_000007.12:g.140127889A>C NCBI36
NG_007873.3:g.148145T>G , LRG_299:g.148145T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000288602.11:c.1508T>G ENSP00000288602.7:p.Ile503Ser
ENST00000479537.6:n.58T>G
ENST00000496384.7:c.1388T>G ENSP00000419060.2:p.Ile463Ser
ENST00000497784.2:c.*838T>G ENSP00000420119.2:p.=
ENST00000642228.1:c.*466T>G ENSP00000493678.1:p.=
ENST00000642875.1:n.830T>G
ENST00000644120.1:n.1778T>G
ENST00000644650.1:n.484T>G
ENST00000644905.1:n.1477T>G
ENST00000644969.2:c.1508T>G MANE Select ENSP00000496776.1:p.Ile503Ser
ENST00000646334.1:n.518T>G
ENST00000646730.1:c.1388T>G ENSP00000494784.1:p.Ile463Ser
ENST00000646891.1:c.1388T>G ENSP00000493543.1:p.Ile463Ser
ENST00000647434.1:n.431T>G ENSP00000495132.1:p.Ile144Ser
ENST00000288602.10:c.1388T>G ENSP00000288602.6:p.Ile463Ser
ENST00000496384.6:n.211T>G
ENST00000497784.1:n.1423T>G ENSP00000420119.1:p.=
NM_004333.4:c.1388T>G , LRG_299t1:c.1388T>G NP_004324.2:p.Ile463Ser
XM_005250045.1:c.1388T>G XP_005250102.1:p.Ile463Ser
XM_005250046.1:c.1388T>G XP_005250103.1:p.Ile463Ser
XM_011516529.1:c.1388T>G XP_011514831.1:p.Ile463Ser
XM_011516530.1:c.1388T>G XP_011514832.1:p.Ile463Ser
XR_242190.1:n.1396T>G
XR_927520.1:n.1396T>G
XR_927521.1:n.1396T>G
XR_927522.1:n.1396T>G
XR_927523.1:n.1396T>G
NM_001354609.1:c.1388T>G NP_001341538.1:p.Ile463Ser
NM_004333.5:c.1388T>G NP_004324.2:p.Ile463Ser
NR_148928.1:n.1693T>G
XM_017012558.1:c.1508T>G XP_016868047.1:p.Ile503Ser
XM_017012559.1:c.1508T>G XP_016868048.1:p.Ile503Ser
XR_001744857.1:n.1516T>G
XR_001744858.1:n.1516T>G
NM_001354609.2:c.1388T>G NP_001341538.1:p.Ile463Ser
NM_001374244.1:c.1508T>G NP_001361173.1:p.Ile503Ser
NM_001374258.1:c.1508T>G MANE Select NP_001361187.1:p.Ile503Ser
NM_004333.6:c.1388T>G NP_004324.2:p.Ile463Ser
NM_001378467.1:c.1397T>G NP_001365396.1:p.Ile466Ser
NM_001378468.1:c.1388T>G NP_001365397.1:p.Ile463Ser
NM_001378469.1:c.1322T>G NP_001365398.1:p.Ile441Ser
NM_001378470.1:c.1286T>G NP_001365399.1:p.Ile429Ser
NM_001378471.1:c.1277T>G NP_001365400.1:p.Ile426Ser
NM_001378472.1:c.1232T>G NP_001365401.1:p.Ile411Ser
NM_001378473.1:c.1232T>G NP_001365402.1:p.Ile411Ser
NM_001378474.1:c.1388T>G NP_001365403.1:p.Ile463Ser
NM_001378475.1:c.1124T>G NP_001365404.1:p.Ile375Ser