Canonical Allele Identifier: CA369588119

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018353
• MyVariant Identifiers: chr7:g.140476794A>C (hg19) ; chr7:g.140776994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776994A>C , CM000669.2:g.140776994A>C	GRCh38
NC_000007.13:g.140476794A>C , CM000669.1:g.140476794A>C	GRCh37
NC_000007.12:g.140123263A>C	NCBI36
NG_007873.3:g.152771T>G , LRG_299:g.152771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1612T>G MANE Select	ENSP00000493543.1:p.Tyr538Asp
ENST00000288602.11:c.1732T>G	ENSP00000288602.7:p.Tyr578Asp
ENST00000479537.6:c.282T>G
ENST00000496384.7:c.1612T>G	ENSP00000419060.2:p.Tyr538Asp
ENST00000497784.2:c.*1062T>G	ENSP00000420119.2:n.*1062T>G
ENST00000642228.1:c.*690T>G	ENSP00000493678.1:n.*690T>G
ENST00000642875.1:n.1176T>G
ENST00000644120.1:n.2002T>G
ENST00000644650.1:c.708T>G
ENST00000644905.1:n.1701T>G
ENST00000644969.2:c.1732T>G MANE Plus Clinical	ENSP00000496776.1:p.Tyr578Asp
ENST00000646730.1:c.1612T>G	ENSP00000494784.1:p.Tyr538Asp
ENST00000646891.1:c.1612T>G	ENSP00000493543.1:p.Tyr538Asp
ENST00000647434.1:c.655T>G	ENSP00000495132.1:p.Tyr219Asp
ENST00000288602.10:c.1612T>G	ENSP00000288602.6:p.Tyr538Asp
ENST00000496384.6:c.435T>G
ENST00000497784.1:c.1647T>G	ENSP00000420119.1:n.1647T>G
NM_004333.4:c.1612T>G , LRG_299t1:c.1612T>G	NP_004324.2:p.Tyr538Asp
XM_005250045.1:c.1612T>G	XP_005250102.1:p.Tyr538Asp
XM_005250046.1:c.1612T>G	XP_005250103.1:p.Tyr538Asp
XM_011516529.1:c.1612T>G	XP_011514831.1:p.Tyr538Asp
XM_011516530.1:c.1612T>G	XP_011514832.1:p.Tyr538Asp
XR_242190.1:n.1620T>G
XR_927520.1:n.1620T>G
XR_927521.1:n.1620T>G
XR_927522.1:n.1620T>G
XR_927523.1:n.1620T>G
NM_001354609.1:c.1612T>G	NP_001341538.1:p.Tyr538Asp
NM_004333.5:c.1612T>G	NP_004324.2:p.Tyr538Asp
NR_148928.1:n.1917T>G
XM_017012558.1:c.1732T>G	XP_016868047.1:p.Tyr578Asp
XM_017012559.1:c.1732T>G	XP_016868048.1:p.Tyr578Asp
XR_001744857.1:n.1740T>G
XR_001744858.1:n.1740T>G
NM_001354609.2:c.1612T>G	NP_001341538.1:p.Tyr538Asp
NM_001374244.1:c.1732T>G	NP_001361173.1:p.Tyr578Asp
NM_001374258.1:c.1732T>G MANE Plus Clinical	NP_001361187.1:p.Tyr578Asp
NM_004333.6:c.1612T>G MANE Select	NP_004324.2:p.Tyr538Asp
NM_001378467.1:c.1621T>G	NP_001365396.1:p.Tyr541Asp
NM_001378468.1:c.1612T>G	NP_001365397.1:p.Tyr538Asp
NM_001378469.1:c.1546T>G	NP_001365398.1:p.Tyr516Asp
NM_001378470.1:c.1510T>G	NP_001365399.1:p.Tyr504Asp
NM_001378471.1:c.1501T>G	NP_001365400.1:p.Tyr501Asp
NM_001378472.1:c.1456T>G	NP_001365401.1:p.Tyr486Asp
NM_001378473.1:c.1456T>G	NP_001365402.1:p.Tyr486Asp
NM_001378474.1:c.1612T>G	NP_001365403.1:p.Tyr538Asp
NM_001378475.1:c.1348T>G	NP_001365404.1:p.Tyr450Asp