Canonical Allele Identifier: CA280052

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40370
• ClinVar RCV Id: RCV000033311 ; RCV000150207 ; RCV001172275 ; RCV001813223 ; RCV002496497
• dbSNP Id: rs397507475
• gnomAD v4: 7-140778054-A-G
• COSMIC: COSM341473
• MyVariant Identifiers: chr7:g.140477854A>G (hg19) ; chr7:g.140778054A>G (hg38)
• ERepo: CA280052/MONDO:0021060/004
• PubMed: PMID:18039235 ; PMID:20395089 ; PMID:21871821

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778054A>G , CM000669.2:g.140778054A>G	GRCh38
NC_000007.13:g.140477854A>G , CM000669.1:g.140477854A>G	GRCh37
NC_000007.12:g.140124323A>G	NCBI36
NG_007873.3:g.151711T>C , LRG_299:g.151711T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1454T>C MANE Select	ENSP00000493543.1:p.Leu485Ser
ENST00000288602.11:c.1574T>C	ENSP00000288602.7:p.Leu525Ser
ENST00000479537.6:c.124T>C
ENST00000496384.7:c.1454T>C	ENSP00000419060.2:p.Leu485Ser
ENST00000497784.2:c.*904T>C	ENSP00000420119.2:n.*904T>C
ENST00000642228.1:c.*532T>C	ENSP00000493678.1:n.*532T>C
ENST00000642875.1:n.1018T>C
ENST00000644120.1:n.1844T>C
ENST00000644650.1:c.550T>C
ENST00000644905.1:n.1543T>C
ENST00000644969.2:c.1574T>C MANE Plus Clinical	ENSP00000496776.1:p.Leu525Ser
ENST00000646730.1:c.1454T>C	ENSP00000494784.1:p.Leu485Ser
ENST00000646891.1:c.1454T>C	ENSP00000493543.1:p.Leu485Ser
ENST00000647434.1:c.497T>C	ENSP00000495132.1:p.Leu166Ser
ENST00000288602.10:c.1454T>C	ENSP00000288602.6:p.Leu485Ser
ENST00000496384.6:c.277T>C
ENST00000497784.1:c.1489T>C	ENSP00000420119.1:n.1489T>C
NM_004333.4:c.1454T>C , LRG_299t1:c.1454T>C	NP_004324.2:p.Leu485Ser
XM_005250045.1:c.1454T>C	XP_005250102.1:p.Leu485Ser
XM_005250046.1:c.1454T>C	XP_005250103.1:p.Leu485Ser
XM_011516529.1:c.1454T>C	XP_011514831.1:p.Leu485Ser
XM_011516530.1:c.1454T>C	XP_011514832.1:p.Leu485Ser
XR_242190.1:n.1462T>C
XR_927520.1:n.1462T>C
XR_927521.1:n.1462T>C
XR_927522.1:n.1462T>C
XR_927523.1:n.1462T>C
NM_001354609.1:c.1454T>C	NP_001341538.1:p.Leu485Ser
NM_004333.5:c.1454T>C	NP_004324.2:p.Leu485Ser
NR_148928.1:n.1759T>C
XM_017012558.1:c.1574T>C	XP_016868047.1:p.Leu525Ser
XM_017012559.1:c.1574T>C	XP_016868048.1:p.Leu525Ser
XR_001744857.1:n.1582T>C
XR_001744858.1:n.1582T>C
NM_001354609.2:c.1454T>C	NP_001341538.1:p.Leu485Ser
NM_001374244.1:c.1574T>C	NP_001361173.1:p.Leu525Ser
NM_001374258.1:c.1574T>C MANE Plus Clinical	NP_001361187.1:p.Leu525Ser
NM_004333.6:c.1454T>C MANE Select	NP_004324.2:p.Leu485Ser
NM_001378467.1:c.1463T>C	NP_001365396.1:p.Leu488Ser
NM_001378468.1:c.1454T>C	NP_001365397.1:p.Leu485Ser
NM_001378469.1:c.1388T>C	NP_001365398.1:p.Leu463Ser
NM_001378470.1:c.1352T>C	NP_001365399.1:p.Leu451Ser
NM_001378471.1:c.1343T>C	NP_001365400.1:p.Leu448Ser
NM_001378472.1:c.1298T>C	NP_001365401.1:p.Leu433Ser
NM_001378473.1:c.1298T>C	NP_001365402.1:p.Leu433Ser
NM_001378474.1:c.1454T>C	NP_001365403.1:p.Leu485Ser
NM_001378475.1:c.1190T>C	NP_001365404.1:p.Leu397Ser