Canonical Allele Identifier: CA457987537
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 1147384
dbSNP Id: rs2128999629
MyVariant Identifiers: chr7:g.140454009G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140754209G>T , CM000669.2:g.140754209G>T GRCh38
NC_000007.13:g.140454009G>T , CM000669.1:g.140454009G>T GRCh37
NC_000007.12:g.140100478G>T NCBI36
NG_007873.3:g.175556C>A , LRG_299:g.175556C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1719C>A MANE Select ENSP00000493543.1:p.Ile573=
ENST00000288602.11:c.1839C>A ENSP00000288602.7:p.Ile613=
ENST00000479537.6:c.389C>A
ENST00000496384.7:c.1719C>A ENSP00000419060.2:p.Ile573=
ENST00000497784.2:c.*1169C>A ENSP00000420119.2:n.*1169C>A
ENST00000642228.1:c.*797C>A ENSP00000493678.1:n.*797C>A
ENST00000642875.1:n.1259-4791C>A
ENST00000644120.1:n.2109C>A
ENST00000644650.1:c.815C>A
ENST00000644905.1:n.1808C>A
ENST00000644969.2:c.1839C>A MANE Plus Clinical ENSP00000496776.1:p.Ile613=
ENST00000646730.1:c.*295C>A ENSP00000494784.1:n.*295C>A
ENST00000646891.1:c.1719C>A ENSP00000493543.1:p.Ile573=
ENST00000647434.1:c.738-4791C>A ENSP00000495132.1:n.738-4791C>A
ENST00000288602.10:c.1719C>A ENSP00000288602.6:p.Ile573=
ENST00000479537.5:c.3C>A ENSP00000418033.1:p.Ile1=
ENST00000496384.6:c.542C>A
ENST00000497784.1:c.1754C>A ENSP00000420119.1:n.1754C>A
NM_004333.4:c.1719C>A , LRG_299t1:c.1719C>A NP_004324.2:p.Ile573=
XM_005250045.1:c.1719C>A XP_005250102.1:p.Ile573=
XM_005250046.1:c.1719C>A XP_005250103.1:p.Ile573=
XM_011516529.1:c.1719C>A XP_011514831.1:p.Ile573=
XM_011516530.1:c.1695-4791C>A XP_011514832.1:n.1695-4791C>A
XR_242190.1:n.1727C>A
XR_927520.1:n.1727C>A
XR_927521.1:n.1727C>A
XR_927522.1:n.1703-4791C>A
XR_927523.1:n.1703-4791C>A
NM_001354609.1:c.1719C>A NP_001341538.1:p.Ile573=
NM_004333.5:c.1719C>A NP_004324.2:p.Ile573=
NR_148928.1:n.2024C>A
XM_017012558.1:c.1839C>A XP_016868047.1:p.Ile613=
XM_017012559.1:c.1839C>A XP_016868048.1:p.Ile613=
XR_001744857.1:n.1847C>A
XR_001744858.1:n.1823-4791C>A
NM_001354609.2:c.1719C>A NP_001341538.1:p.Ile573=
NM_001374244.1:c.1839C>A NP_001361173.1:p.Ile613=
NM_001374258.1:c.1839C>A MANE Plus Clinical NP_001361187.1:p.Ile613=
NM_004333.6:c.1719C>A MANE Select NP_004324.2:p.Ile573=
NM_001378467.1:c.1728C>A NP_001365396.1:p.Ile576=
NM_001378468.1:c.1719C>A NP_001365397.1:p.Ile573=
NM_001378469.1:c.1653C>A NP_001365398.1:p.Ile551=
NM_001378470.1:c.1617C>A NP_001365399.1:p.Ile539=
NM_001378471.1:c.1608C>A NP_001365400.1:p.Ile536=
NM_001378472.1:c.1563C>A NP_001365401.1:p.Ile521=
NM_001378473.1:c.1563C>A NP_001365402.1:p.Ile521=
NM_001378474.1:c.1719C>A NP_001365403.1:p.Ile573=
NM_001378475.1:c.1455C>A NP_001365404.1:p.Ile485=