Canonical Allele Identifier: CA369588899

Gene: BRAF

Linked Data

• ClinVar Variation Id: 1711059
• ClinVar RCV Id: RCV002292346
• MyVariant Identifiers: chr7:g.140481420A>G (hg19) ; chr7:g.140781620A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1388T>C MANE Select	ENSP00000493543.1:p.Ile463Thr
ENST00000288602.11:c.1508T>C	ENSP00000288602.7:p.Ile503Thr
ENST00000479537.6:c.58T>C
ENST00000496384.7:c.1388T>C	ENSP00000419060.2:p.Ile463Thr
ENST00000497784.2:c.*838T>C	ENSP00000420119.2:n.*838T>C
ENST00000642228.1:c.*466T>C	ENSP00000493678.1:n.*466T>C
ENST00000642875.1:n.830T>C
ENST00000644120.1:n.1778T>C
ENST00000644650.1:c.484T>C
ENST00000644905.1:n.1477T>C
ENST00000644969.2:c.1508T>C MANE Plus Clinical	ENSP00000496776.1:p.Ile503Thr
ENST00000646334.1:n.518T>C
ENST00000646730.1:c.1388T>C	ENSP00000494784.1:p.Ile463Thr
ENST00000646891.1:c.1388T>C	ENSP00000493543.1:p.Ile463Thr
ENST00000647434.1:c.431T>C	ENSP00000495132.1:p.Ile144Thr
ENST00000288602.10:c.1388T>C	ENSP00000288602.6:p.Ile463Thr
ENST00000496384.6:c.211T>C
ENST00000497784.1:c.1423T>C	ENSP00000420119.1:n.1423T>C
NM_004333.4:c.1388T>C , LRG_299t1:c.1388T>C	NP_004324.2:p.Ile463Thr
XM_005250045.1:c.1388T>C	XP_005250102.1:p.Ile463Thr
XM_005250046.1:c.1388T>C	XP_005250103.1:p.Ile463Thr
XM_011516529.1:c.1388T>C	XP_011514831.1:p.Ile463Thr
XM_011516530.1:c.1388T>C	XP_011514832.1:p.Ile463Thr
XR_242190.1:n.1396T>C
XR_927520.1:n.1396T>C
XR_927521.1:n.1396T>C
XR_927522.1:n.1396T>C
XR_927523.1:n.1396T>C
NM_001354609.1:c.1388T>C	NP_001341538.1:p.Ile463Thr
NM_004333.5:c.1388T>C	NP_004324.2:p.Ile463Thr
NR_148928.1:n.1693T>C
XM_017012558.1:c.1508T>C	XP_016868047.1:p.Ile503Thr
XM_017012559.1:c.1508T>C	XP_016868048.1:p.Ile503Thr
XR_001744857.1:n.1516T>C
XR_001744858.1:n.1516T>C
NM_001354609.2:c.1388T>C	NP_001341538.1:p.Ile463Thr
NM_001374244.1:c.1508T>C	NP_001361173.1:p.Ile503Thr
NM_001374258.1:c.1508T>C MANE Plus Clinical	NP_001361187.1:p.Ile503Thr
NM_004333.6:c.1388T>C MANE Select	NP_004324.2:p.Ile463Thr
NM_001378467.1:c.1397T>C	NP_001365396.1:p.Ile466Thr
NM_001378468.1:c.1388T>C	NP_001365397.1:p.Ile463Thr
NM_001378469.1:c.1322T>C	NP_001365398.1:p.Ile441Thr
NM_001378470.1:c.1286T>C	NP_001365399.1:p.Ile429Thr
NM_001378471.1:c.1277T>C	NP_001365400.1:p.Ile426Thr
NM_001378472.1:c.1232T>C	NP_001365401.1:p.Ile411Thr
NM_001378473.1:c.1232T>C	NP_001365402.1:p.Ile411Thr
NM_001378474.1:c.1388T>C	NP_001365403.1:p.Ile463Thr
NM_001378475.1:c.1124T>C	NP_001365404.1:p.Ile375Thr