Canonical Allele Identifier: CA369588240

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2711713
• ClinVar RCV Id: RCV003539648
• dbSNP Id: rs1800399164
• MyVariant Identifiers: chr7:g.140476845T>C (hg19) ; chr7:g.140777045T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777045T>C , CM000669.2:g.140777045T>C	GRCh38
NC_000007.13:g.140476845T>C , CM000669.1:g.140476845T>C	GRCh37
NC_000007.12:g.140123314T>C	NCBI36
NG_007873.3:g.152720A>G , LRG_299:g.152720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1561A>G MANE Select	ENSP00000493543.1:p.Thr521Ala
ENST00000288602.11:c.1681A>G	ENSP00000288602.7:p.Thr561Ala
ENST00000479537.6:c.231A>G
ENST00000496384.7:c.1561A>G	ENSP00000419060.2:p.Thr521Ala
ENST00000497784.2:c.*1011A>G	ENSP00000420119.2:n.*1011A>G
ENST00000642228.1:c.*639A>G	ENSP00000493678.1:n.*639A>G
ENST00000642875.1:n.1125A>G
ENST00000644120.1:n.1951A>G
ENST00000644650.1:c.657A>G
ENST00000644905.1:n.1650A>G
ENST00000644969.2:c.1681A>G MANE Plus Clinical	ENSP00000496776.1:p.Thr561Ala
ENST00000646730.1:c.1561A>G	ENSP00000494784.1:p.Thr521Ala
ENST00000646891.1:c.1561A>G	ENSP00000493543.1:p.Thr521Ala
ENST00000647434.1:c.604A>G	ENSP00000495132.1:p.Thr202Ala
ENST00000288602.10:c.1561A>G	ENSP00000288602.6:p.Thr521Ala
ENST00000496384.6:c.384A>G
ENST00000497784.1:c.1596A>G	ENSP00000420119.1:n.1596A>G
NM_004333.4:c.1561A>G , LRG_299t1:c.1561A>G	NP_004324.2:p.Thr521Ala
XM_005250045.1:c.1561A>G	XP_005250102.1:p.Thr521Ala
XM_005250046.1:c.1561A>G	XP_005250103.1:p.Thr521Ala
XM_011516529.1:c.1561A>G	XP_011514831.1:p.Thr521Ala
XM_011516530.1:c.1561A>G	XP_011514832.1:p.Thr521Ala
XR_242190.1:n.1569A>G
XR_927520.1:n.1569A>G
XR_927521.1:n.1569A>G
XR_927522.1:n.1569A>G
XR_927523.1:n.1569A>G
NM_001354609.1:c.1561A>G	NP_001341538.1:p.Thr521Ala
NM_004333.5:c.1561A>G	NP_004324.2:p.Thr521Ala
NR_148928.1:n.1866A>G
XM_017012558.1:c.1681A>G	XP_016868047.1:p.Thr561Ala
XM_017012559.1:c.1681A>G	XP_016868048.1:p.Thr561Ala
XR_001744857.1:n.1689A>G
XR_001744858.1:n.1689A>G
NM_001354609.2:c.1561A>G	NP_001341538.1:p.Thr521Ala
NM_001374244.1:c.1681A>G	NP_001361173.1:p.Thr561Ala
NM_001374258.1:c.1681A>G MANE Plus Clinical	NP_001361187.1:p.Thr561Ala
NM_004333.6:c.1561A>G MANE Select	NP_004324.2:p.Thr521Ala
NM_001378467.1:c.1570A>G	NP_001365396.1:p.Thr524Ala
NM_001378468.1:c.1561A>G	NP_001365397.1:p.Thr521Ala
NM_001378469.1:c.1495A>G	NP_001365398.1:p.Thr499Ala
NM_001378470.1:c.1459A>G	NP_001365399.1:p.Thr487Ala
NM_001378471.1:c.1450A>G	NP_001365400.1:p.Thr484Ala
NM_001378472.1:c.1405A>G	NP_001365401.1:p.Thr469Ala
NM_001378473.1:c.1405A>G	NP_001365402.1:p.Thr469Ala
NM_001378474.1:c.1561A>G	NP_001365403.1:p.Thr521Ala
NM_001378475.1:c.1297A>G	NP_001365404.1:p.Thr433Ala