Canonical Allele Identifier: CA4516694

Gene: BRAF

Linked Data

• ClinVar Variation Id: 1339665
• ClinVar RCV Id: RCV001825053 ; RCV002545197 ; RCV003319228
• dbSNP Id: rs745783052
• ExAC: 7:140476716 T / C
• gnomAD v2: 7-140476716-T-C
• gnomAD v4: 7-140776916-T-C
• MyVariant Identifiers: chr7:g.140476716T>C (hg19) ; chr7:g.140776916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776916T>C , CM000669.2:g.140776916T>C	GRCh38
NC_000007.13:g.140476716T>C , CM000669.1:g.140476716T>C	GRCh37
NC_000007.12:g.140123185T>C	NCBI36
NG_007873.3:g.152849A>G , LRG_299:g.152849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1690A>G MANE Select	ENSP00000493543.1:p.Met564Val
ENST00000288602.11:c.1810A>G	ENSP00000288602.7:p.Met604Val
ENST00000479537.6:c.360A>G
ENST00000496384.7:c.1690A>G	ENSP00000419060.2:p.Met564Val
ENST00000497784.2:c.*1140A>G	ENSP00000420119.2:n.*1140A>G
ENST00000642228.1:c.*768A>G	ENSP00000493678.1:n.*768A>G
ENST00000642875.1:n.1254A>G
ENST00000644120.1:n.2080A>G
ENST00000644650.1:c.786A>G
ENST00000644905.1:n.1779A>G
ENST00000644969.2:c.1810A>G MANE Plus Clinical	ENSP00000496776.1:p.Met604Val
ENST00000646730.1:c.1690A>G	ENSP00000494784.1:p.Met564Val
ENST00000646891.1:c.1690A>G	ENSP00000493543.1:p.Met564Val
ENST00000647434.1:c.733A>G	ENSP00000495132.1:p.Met245Val
ENST00000288602.10:c.1690A>G	ENSP00000288602.6:p.Met564Val
ENST00000496384.6:c.513A>G
ENST00000497784.1:c.1725A>G	ENSP00000420119.1:n.1725A>G
NM_004333.4:c.1690A>G , LRG_299t1:c.1690A>G	NP_004324.2:p.Met564Val
XM_005250045.1:c.1690A>G	XP_005250102.1:p.Met564Val
XM_005250046.1:c.1690A>G	XP_005250103.1:p.Met564Val
XM_011516529.1:c.1690A>G	XP_011514831.1:p.Met564Val
XM_011516530.1:c.1690A>G	XP_011514832.1:p.Met564Val
XR_242190.1:n.1698A>G
XR_927520.1:n.1698A>G
XR_927521.1:n.1698A>G
XR_927522.1:n.1698A>G
XR_927523.1:n.1698A>G
NM_001354609.1:c.1690A>G	NP_001341538.1:p.Met564Val
NM_004333.5:c.1690A>G	NP_004324.2:p.Met564Val
NR_148928.1:n.1995A>G
XM_017012558.1:c.1810A>G	XP_016868047.1:p.Met604Val
XM_017012559.1:c.1810A>G	XP_016868048.1:p.Met604Val
XR_001744857.1:n.1818A>G
XR_001744858.1:n.1818A>G
NM_001354609.2:c.1690A>G	NP_001341538.1:p.Met564Val
NM_001374244.1:c.1810A>G	NP_001361173.1:p.Met604Val
NM_001374258.1:c.1810A>G MANE Plus Clinical	NP_001361187.1:p.Met604Val
NM_004333.6:c.1690A>G MANE Select	NP_004324.2:p.Met564Val
NM_001378467.1:c.1699A>G	NP_001365396.1:p.Met567Val
NM_001378468.1:c.1690A>G	NP_001365397.1:p.Met564Val
NM_001378469.1:c.1624A>G	NP_001365398.1:p.Met542Val
NM_001378470.1:c.1588A>G	NP_001365399.1:p.Met530Val
NM_001378471.1:c.1579A>G	NP_001365400.1:p.Met527Val
NM_001378472.1:c.1534A>G	NP_001365401.1:p.Met512Val
NM_001378473.1:c.1534A>G	NP_001365402.1:p.Met512Val
NM_001378474.1:c.1690A>G	NP_001365403.1:p.Met564Val
NM_001378475.1:c.1426A>G	NP_001365404.1:p.Met476Val