Canonical Allele Identifier: CA369587916

Gene: BRAF

Linked Data

• gnomAD v4: 7-140776954-A-G
• MyVariant Identifiers: chr7:g.140476754A>G (hg19) ; chr7:g.140776954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776954A>G , CM000669.2:g.140776954A>G	GRCh38
NC_000007.13:g.140476754A>G , CM000669.1:g.140476754A>G	GRCh37
NC_000007.12:g.140123223A>G	NCBI36
NG_007873.3:g.152811T>C , LRG_299:g.152811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1652T>C MANE Select	ENSP00000493543.1:p.Ile551Thr
ENST00000288602.11:c.1772T>C	ENSP00000288602.7:p.Ile591Thr
ENST00000479537.6:c.322T>C
ENST00000496384.7:c.1652T>C	ENSP00000419060.2:p.Ile551Thr
ENST00000497784.2:c.*1102T>C	ENSP00000420119.2:n.*1102T>C
ENST00000642228.1:c.*730T>C	ENSP00000493678.1:n.*730T>C
ENST00000642875.1:n.1216T>C
ENST00000644120.1:n.2042T>C
ENST00000644650.1:c.748T>C
ENST00000644905.1:n.1741T>C
ENST00000644969.2:c.1772T>C MANE Plus Clinical	ENSP00000496776.1:p.Ile591Thr
ENST00000646730.1:c.1652T>C	ENSP00000494784.1:p.Ile551Thr
ENST00000646891.1:c.1652T>C	ENSP00000493543.1:p.Ile551Thr
ENST00000647434.1:c.695T>C	ENSP00000495132.1:p.Ile232Thr
ENST00000288602.10:c.1652T>C	ENSP00000288602.6:p.Ile551Thr
ENST00000496384.6:c.475T>C
ENST00000497784.1:c.1687T>C	ENSP00000420119.1:n.1687T>C
NM_004333.4:c.1652T>C , LRG_299t1:c.1652T>C	NP_004324.2:p.Ile551Thr
XM_005250045.1:c.1652T>C	XP_005250102.1:p.Ile551Thr
XM_005250046.1:c.1652T>C	XP_005250103.1:p.Ile551Thr
XM_011516529.1:c.1652T>C	XP_011514831.1:p.Ile551Thr
XM_011516530.1:c.1652T>C	XP_011514832.1:p.Ile551Thr
XR_242190.1:n.1660T>C
XR_927520.1:n.1660T>C
XR_927521.1:n.1660T>C
XR_927522.1:n.1660T>C
XR_927523.1:n.1660T>C
NM_001354609.1:c.1652T>C	NP_001341538.1:p.Ile551Thr
NM_004333.5:c.1652T>C	NP_004324.2:p.Ile551Thr
NR_148928.1:n.1957T>C
XM_017012558.1:c.1772T>C	XP_016868047.1:p.Ile591Thr
XM_017012559.1:c.1772T>C	XP_016868048.1:p.Ile591Thr
XR_001744857.1:n.1780T>C
XR_001744858.1:n.1780T>C
NM_001354609.2:c.1652T>C	NP_001341538.1:p.Ile551Thr
NM_001374244.1:c.1772T>C	NP_001361173.1:p.Ile591Thr
NM_001374258.1:c.1772T>C MANE Plus Clinical	NP_001361187.1:p.Ile591Thr
NM_004333.6:c.1652T>C MANE Select	NP_004324.2:p.Ile551Thr
NM_001378467.1:c.1661T>C	NP_001365396.1:p.Ile554Thr
NM_001378468.1:c.1652T>C	NP_001365397.1:p.Ile551Thr
NM_001378469.1:c.1586T>C	NP_001365398.1:p.Ile529Thr
NM_001378470.1:c.1550T>C	NP_001365399.1:p.Ile517Thr
NM_001378471.1:c.1541T>C	NP_001365400.1:p.Ile514Thr
NM_001378472.1:c.1496T>C	NP_001365401.1:p.Ile499Thr
NM_001378473.1:c.1496T>C	NP_001365402.1:p.Ile499Thr
NM_001378474.1:c.1652T>C	NP_001365403.1:p.Ile551Thr
NM_001378475.1:c.1388T>C	NP_001365404.1:p.Ile463Thr