Canonical Allele Identifier: CA457986844

Gene: BRAF

Linked Data

• dbSNP Id: rs1313501701
• gnomAD v2: 7-140453102-T-C
• gnomAD v4: 7-140753302-T-C
• MyVariant Identifiers: chr7:g.140453102T>C (hg19) ; chr7:g.140753302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753302T>C , CM000669.2:g.140753302T>C	GRCh38
NC_000007.13:g.140453102T>C , CM000669.1:g.140453102T>C	GRCh37
NC_000007.12:g.140099571T>C	NCBI36
NG_007873.3:g.176463A>G , LRG_299:g.176463A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1833A>G MANE Select	ENSP00000493543.1:p.Glu611=
ENST00000288602.11:c.1953A>G	ENSP00000288602.7:p.Glu651=
ENST00000479537.6:c.503A>G
ENST00000496384.7:c.1833A>G	ENSP00000419060.2:p.Glu611=
ENST00000497784.2:c.*1283A>G	ENSP00000420119.2:n.*1283A>G
ENST00000642228.1:c.*911A>G	ENSP00000493678.1:n.*911A>G
ENST00000642875.1:n.1259-3884A>G
ENST00000644120.1:n.2223A>G
ENST00000644650.1:c.929A>G
ENST00000644905.1:n.2715A>G
ENST00000644969.2:c.1953A>G MANE Plus Clinical	ENSP00000496776.1:p.Glu651=
ENST00000646730.1:c.*409A>G	ENSP00000494784.1:n.*409A>G
ENST00000646891.1:c.1833A>G	ENSP00000493543.1:p.Glu611=
ENST00000647434.1:c.738-3884A>G	ENSP00000495132.1:n.738-3884A>G
ENST00000288602.10:c.1833A>G	ENSP00000288602.6:p.Glu611=
ENST00000479537.5:c.117A>G	ENSP00000418033.1:p.Glu39=
ENST00000496384.6:c.656A>G
ENST00000497784.1:c.1868A>G	ENSP00000420119.1:n.1868A>G
NM_004333.4:c.1833A>G , LRG_299t1:c.1833A>G	NP_004324.2:p.Glu611=
XM_005250045.1:c.1833A>G	XP_005250102.1:p.Glu611=
XM_005250046.1:c.1833A>G	XP_005250103.1:p.Glu611=
XM_011516529.1:c.1833A>G	XP_011514831.1:p.Glu611=
XM_011516530.1:c.1695-3884A>G	XP_011514832.1:n.1695-3884A>G
XR_242190.1:n.1841A>G
XR_927520.1:n.1841A>G
XR_927521.1:n.1841A>G
XR_927522.1:n.1703-3884A>G
XR_927523.1:n.1703-3884A>G
NM_001354609.1:c.1833A>G	NP_001341538.1:p.Glu611=
NM_004333.5:c.1833A>G	NP_004324.2:p.Glu611=
NR_148928.1:n.2931A>G
XM_017012558.1:c.1953A>G	XP_016868047.1:p.Glu651=
XM_017012559.1:c.1953A>G	XP_016868048.1:p.Glu651=
XR_001744857.1:n.1961A>G
XR_001744858.1:n.1823-3884A>G
NM_001354609.2:c.1833A>G	NP_001341538.1:p.Glu611=
NM_001374244.1:c.1953A>G	NP_001361173.1:p.Glu651=
NM_001374258.1:c.1953A>G MANE Plus Clinical	NP_001361187.1:p.Glu651=
NM_004333.6:c.1833A>G MANE Select	NP_004324.2:p.Glu611=
NM_001378467.1:c.1842A>G	NP_001365396.1:p.Glu614=
NM_001378468.1:c.1833A>G	NP_001365397.1:p.Glu611=
NM_001378469.1:c.1767A>G	NP_001365398.1:p.Glu589=
NM_001378470.1:c.1731A>G	NP_001365399.1:p.Glu577=
NM_001378471.1:c.1722A>G	NP_001365400.1:p.Glu574=
NM_001378472.1:c.1677A>G	NP_001365401.1:p.Glu559=
NM_001378473.1:c.1677A>G	NP_001365402.1:p.Glu559=
NM_001378474.1:c.1833A>G	NP_001365403.1:p.Glu611=
NM_001378475.1:c.1569A>G	NP_001365404.1:p.Glu523=