Canonical Allele Identifier: CA369588017

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018306
• MyVariant Identifiers: chr7:g.140476773C>G (hg19) ; chr7:g.140776973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776973C>G , CM000669.2:g.140776973C>G	GRCh38
NC_000007.13:g.140476773C>G , CM000669.1:g.140476773C>G	GRCh37
NC_000007.12:g.140123242C>G	NCBI36
NG_007873.3:g.152792G>C , LRG_299:g.152792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1633G>C MANE Select	ENSP00000493543.1:p.Glu545Gln
ENST00000288602.11:c.1753G>C	ENSP00000288602.7:p.Glu585Gln
ENST00000479537.6:c.303G>C
ENST00000496384.7:c.1633G>C	ENSP00000419060.2:p.Glu545Gln
ENST00000497784.2:c.*1083G>C	ENSP00000420119.2:n.*1083G>C
ENST00000642228.1:c.*711G>C	ENSP00000493678.1:n.*711G>C
ENST00000642875.1:n.1197G>C
ENST00000644120.1:n.2023G>C
ENST00000644650.1:c.729G>C
ENST00000644905.1:n.1722G>C
ENST00000644969.2:c.1753G>C MANE Plus Clinical	ENSP00000496776.1:p.Glu585Gln
ENST00000646730.1:c.1633G>C	ENSP00000494784.1:p.Glu545Gln
ENST00000646891.1:c.1633G>C	ENSP00000493543.1:p.Glu545Gln
ENST00000647434.1:c.676G>C	ENSP00000495132.1:p.Glu226Gln
ENST00000288602.10:c.1633G>C	ENSP00000288602.6:p.Glu545Gln
ENST00000496384.6:c.456G>C
ENST00000497784.1:c.1668G>C	ENSP00000420119.1:n.1668G>C
NM_004333.4:c.1633G>C , LRG_299t1:c.1633G>C	NP_004324.2:p.Glu545Gln
XM_005250045.1:c.1633G>C	XP_005250102.1:p.Glu545Gln
XM_005250046.1:c.1633G>C	XP_005250103.1:p.Glu545Gln
XM_011516529.1:c.1633G>C	XP_011514831.1:p.Glu545Gln
XM_011516530.1:c.1633G>C	XP_011514832.1:p.Glu545Gln
XR_242190.1:n.1641G>C
XR_927520.1:n.1641G>C
XR_927521.1:n.1641G>C
XR_927522.1:n.1641G>C
XR_927523.1:n.1641G>C
NM_001354609.1:c.1633G>C	NP_001341538.1:p.Glu545Gln
NM_004333.5:c.1633G>C	NP_004324.2:p.Glu545Gln
NR_148928.1:n.1938G>C
XM_017012558.1:c.1753G>C	XP_016868047.1:p.Glu585Gln
XM_017012559.1:c.1753G>C	XP_016868048.1:p.Glu585Gln
XR_001744857.1:n.1761G>C
XR_001744858.1:n.1761G>C
NM_001354609.2:c.1633G>C	NP_001341538.1:p.Glu545Gln
NM_001374244.1:c.1753G>C	NP_001361173.1:p.Glu585Gln
NM_001374258.1:c.1753G>C MANE Plus Clinical	NP_001361187.1:p.Glu585Gln
NM_004333.6:c.1633G>C MANE Select	NP_004324.2:p.Glu545Gln
NM_001378467.1:c.1642G>C	NP_001365396.1:p.Glu548Gln
NM_001378468.1:c.1633G>C	NP_001365397.1:p.Glu545Gln
NM_001378469.1:c.1567G>C	NP_001365398.1:p.Glu523Gln
NM_001378470.1:c.1531G>C	NP_001365399.1:p.Glu511Gln
NM_001378471.1:c.1522G>C	NP_001365400.1:p.Glu508Gln
NM_001378472.1:c.1477G>C	NP_001365401.1:p.Glu493Gln
NM_001378473.1:c.1477G>C	NP_001365402.1:p.Glu493Gln
NM_001378474.1:c.1633G>C	NP_001365403.1:p.Glu545Gln
NM_001378475.1:c.1369G>C	NP_001365404.1:p.Glu457Gln