Canonical Allele Identifier: CA457986980

Gene: BRAF

Linked Data

• dbSNP Id: rs2128998351
• COSMIC: COSM1124
• MyVariant Identifiers: chr7:g.140453144T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753344T>C , CM000669.2:g.140753344T>C	GRCh38
NC_000007.13:g.140453144T>C , CM000669.1:g.140453144T>C	GRCh37
NC_000007.12:g.140099613T>C	NCBI36
NG_007873.3:g.176421A>G , LRG_299:g.176421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1791A>G MANE Select	ENSP00000493543.1:p.Leu597=
ENST00000288602.11:c.1911A>G	ENSP00000288602.7:p.Leu637=
ENST00000479537.6:c.461A>G
ENST00000496384.7:c.1791A>G	ENSP00000419060.2:p.Leu597=
ENST00000497784.2:c.*1241A>G	ENSP00000420119.2:n.*1241A>G
ENST00000642228.1:c.*869A>G	ENSP00000493678.1:n.*869A>G
ENST00000642875.1:n.1259-3926A>G
ENST00000644120.1:n.2181A>G
ENST00000644650.1:c.887A>G
ENST00000644905.1:n.2673A>G
ENST00000644969.2:c.1911A>G MANE Plus Clinical	ENSP00000496776.1:p.Leu637=
ENST00000646730.1:c.*367A>G	ENSP00000494784.1:n.*367A>G
ENST00000646891.1:c.1791A>G	ENSP00000493543.1:p.Leu597=
ENST00000647434.1:c.738-3926A>G	ENSP00000495132.1:n.738-3926A>G
ENST00000288602.10:c.1791A>G	ENSP00000288602.6:p.Leu597=
ENST00000479537.5:c.75A>G	ENSP00000418033.1:p.Leu25=
ENST00000496384.6:c.614A>G
ENST00000497784.1:c.1826A>G	ENSP00000420119.1:n.1826A>G
NM_004333.4:c.1791A>G , LRG_299t1:c.1791A>G	NP_004324.2:p.Leu597=
XM_005250045.1:c.1791A>G	XP_005250102.1:p.Leu597=
XM_005250046.1:c.1791A>G	XP_005250103.1:p.Leu597=
XM_011516529.1:c.1791A>G	XP_011514831.1:p.Leu597=
XM_011516530.1:c.1695-3926A>G	XP_011514832.1:n.1695-3926A>G
XR_242190.1:n.1799A>G
XR_927520.1:n.1799A>G
XR_927521.1:n.1799A>G
XR_927522.1:n.1703-3926A>G
XR_927523.1:n.1703-3926A>G
NM_001354609.1:c.1791A>G	NP_001341538.1:p.Leu597=
NM_004333.5:c.1791A>G	NP_004324.2:p.Leu597=
NR_148928.1:n.2889A>G
XM_017012558.1:c.1911A>G	XP_016868047.1:p.Leu637=
XM_017012559.1:c.1911A>G	XP_016868048.1:p.Leu637=
XR_001744857.1:n.1919A>G
XR_001744858.1:n.1823-3926A>G
NM_001354609.2:c.1791A>G	NP_001341538.1:p.Leu597=
NM_001374244.1:c.1911A>G	NP_001361173.1:p.Leu637=
NM_001374258.1:c.1911A>G MANE Plus Clinical	NP_001361187.1:p.Leu637=
NM_004333.6:c.1791A>G MANE Select	NP_004324.2:p.Leu597=
NM_001378467.1:c.1800A>G	NP_001365396.1:p.Leu600=
NM_001378468.1:c.1791A>G	NP_001365397.1:p.Leu597=
NM_001378469.1:c.1725A>G	NP_001365398.1:p.Leu575=
NM_001378470.1:c.1689A>G	NP_001365399.1:p.Leu563=
NM_001378471.1:c.1680A>G	NP_001365400.1:p.Leu560=
NM_001378472.1:c.1635A>G	NP_001365401.1:p.Leu545=
NM_001378473.1:c.1635A>G	NP_001365402.1:p.Leu545=
NM_001378474.1:c.1791A>G	NP_001365403.1:p.Leu597=
NM_001378475.1:c.1527A>G	NP_001365404.1:p.Leu509=