Canonical Allele Identifier: CA369587918

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018253
• MyVariant Identifiers: chr7:g.140476754A>T (hg19) ; chr7:g.140776954A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1652T>A MANE Select	ENSP00000493543.1:p.Ile551Asn
ENST00000288602.11:c.1772T>A	ENSP00000288602.7:p.Ile591Asn
ENST00000479537.6:c.322T>A
ENST00000496384.7:c.1652T>A	ENSP00000419060.2:p.Ile551Asn
ENST00000497784.2:c.*1102T>A	ENSP00000420119.2:n.*1102T>A
ENST00000642228.1:c.*730T>A	ENSP00000493678.1:n.*730T>A
ENST00000642875.1:n.1216T>A
ENST00000644120.1:n.2042T>A
ENST00000644650.1:c.748T>A
ENST00000644905.1:n.1741T>A
ENST00000644969.2:c.1772T>A MANE Plus Clinical	ENSP00000496776.1:p.Ile591Asn
ENST00000646730.1:c.1652T>A	ENSP00000494784.1:p.Ile551Asn
ENST00000646891.1:c.1652T>A	ENSP00000493543.1:p.Ile551Asn
ENST00000647434.1:c.695T>A	ENSP00000495132.1:p.Ile232Asn
ENST00000288602.10:c.1652T>A	ENSP00000288602.6:p.Ile551Asn
ENST00000496384.6:c.475T>A
ENST00000497784.1:c.1687T>A	ENSP00000420119.1:n.1687T>A
NM_004333.4:c.1652T>A , LRG_299t1:c.1652T>A	NP_004324.2:p.Ile551Asn
XM_005250045.1:c.1652T>A	XP_005250102.1:p.Ile551Asn
XM_005250046.1:c.1652T>A	XP_005250103.1:p.Ile551Asn
XM_011516529.1:c.1652T>A	XP_011514831.1:p.Ile551Asn
XM_011516530.1:c.1652T>A	XP_011514832.1:p.Ile551Asn
XR_242190.1:n.1660T>A
XR_927520.1:n.1660T>A
XR_927521.1:n.1660T>A
XR_927522.1:n.1660T>A
XR_927523.1:n.1660T>A
NM_001354609.1:c.1652T>A	NP_001341538.1:p.Ile551Asn
NM_004333.5:c.1652T>A	NP_004324.2:p.Ile551Asn
NR_148928.1:n.1957T>A
XM_017012558.1:c.1772T>A	XP_016868047.1:p.Ile591Asn
XM_017012559.1:c.1772T>A	XP_016868048.1:p.Ile591Asn
XR_001744857.1:n.1780T>A
XR_001744858.1:n.1780T>A
NM_001354609.2:c.1652T>A	NP_001341538.1:p.Ile551Asn
NM_001374244.1:c.1772T>A	NP_001361173.1:p.Ile591Asn
NM_001374258.1:c.1772T>A MANE Plus Clinical	NP_001361187.1:p.Ile591Asn
NM_004333.6:c.1652T>A MANE Select	NP_004324.2:p.Ile551Asn
NM_001378467.1:c.1661T>A	NP_001365396.1:p.Ile554Asn
NM_001378468.1:c.1652T>A	NP_001365397.1:p.Ile551Asn
NM_001378469.1:c.1586T>A	NP_001365398.1:p.Ile529Asn
NM_001378470.1:c.1550T>A	NP_001365399.1:p.Ile517Asn
NM_001378471.1:c.1541T>A	NP_001365400.1:p.Ile514Asn
NM_001378472.1:c.1496T>A	NP_001365401.1:p.Ile499Asn
NM_001378473.1:c.1496T>A	NP_001365402.1:p.Ile499Asn
NM_001378474.1:c.1652T>A	NP_001365403.1:p.Ile551Asn
NM_001378475.1:c.1388T>A	NP_001365404.1:p.Ile463Asn