Canonical Allele Identifier: CA250333

Gene: BRAF

Linked Data

• ClinVar Variation Id: 29808
• ClinVar RCV Id: RCV000022682 ; RCV000208560 ; RCV000191066 ; RCV001781297
• dbSNP Id: rs606231228
• MyVariant Identifiers: chr7:g.140476813C>G (hg19) ; chr7:g.140777013C>G (hg38)
• PubMed: PMID:19206169 ; PMID:20301303 ; PMID:23093928 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777013C>G , CM000669.2:g.140777013C>G	GRCh38
NC_000007.13:g.140476813C>G , CM000669.1:g.140476813C>G	GRCh37
NC_000007.12:g.140123282C>G	NCBI36
NG_007873.3:g.152752G>C , LRG_299:g.152752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1593G>C MANE Select	ENSP00000493543.1:p.Trp531Cys
ENST00000288602.11:c.1713G>C	ENSP00000288602.7:p.Trp571Cys
ENST00000479537.6:c.263G>C
ENST00000496384.7:c.1593G>C	ENSP00000419060.2:p.Trp531Cys
ENST00000497784.2:c.*1043G>C	ENSP00000420119.2:n.*1043G>C
ENST00000642228.1:c.*671G>C	ENSP00000493678.1:n.*671G>C
ENST00000642875.1:n.1157G>C
ENST00000644120.1:n.1983G>C
ENST00000644650.1:c.689G>C
ENST00000644905.1:n.1682G>C
ENST00000644969.2:c.1713G>C MANE Plus Clinical	ENSP00000496776.1:p.Trp571Cys
ENST00000646730.1:c.1593G>C	ENSP00000494784.1:p.Trp531Cys
ENST00000646891.1:c.1593G>C	ENSP00000493543.1:p.Trp531Cys
ENST00000647434.1:c.636G>C	ENSP00000495132.1:p.Trp212Cys
ENST00000288602.10:c.1593G>C	ENSP00000288602.6:p.Trp531Cys
ENST00000496384.6:c.416G>C
ENST00000497784.1:c.1628G>C	ENSP00000420119.1:n.1628G>C
NM_004333.4:c.1593G>C , LRG_299t1:c.1593G>C	NP_004324.2:p.Trp531Cys
XM_005250045.1:c.1593G>C	XP_005250102.1:p.Trp531Cys
XM_005250046.1:c.1593G>C	XP_005250103.1:p.Trp531Cys
XM_011516529.1:c.1593G>C	XP_011514831.1:p.Trp531Cys
XM_011516530.1:c.1593G>C	XP_011514832.1:p.Trp531Cys
XR_242190.1:n.1601G>C
XR_927520.1:n.1601G>C
XR_927521.1:n.1601G>C
XR_927522.1:n.1601G>C
XR_927523.1:n.1601G>C
NM_001354609.1:c.1593G>C	NP_001341538.1:p.Trp531Cys
NM_004333.5:c.1593G>C	NP_004324.2:p.Trp531Cys
NR_148928.1:n.1898G>C
XM_017012558.1:c.1713G>C	XP_016868047.1:p.Trp571Cys
XM_017012559.1:c.1713G>C	XP_016868048.1:p.Trp571Cys
XR_001744857.1:n.1721G>C
XR_001744858.1:n.1721G>C
NM_001354609.2:c.1593G>C	NP_001341538.1:p.Trp531Cys
NM_001374244.1:c.1713G>C	NP_001361173.1:p.Trp571Cys
NM_001374258.1:c.1713G>C MANE Plus Clinical	NP_001361187.1:p.Trp571Cys
NM_004333.6:c.1593G>C MANE Select	NP_004324.2:p.Trp531Cys
NM_001378467.1:c.1602G>C	NP_001365396.1:p.Trp534Cys
NM_001378468.1:c.1593G>C	NP_001365397.1:p.Trp531Cys
NM_001378469.1:c.1527G>C	NP_001365398.1:p.Trp509Cys
NM_001378470.1:c.1491G>C	NP_001365399.1:p.Trp497Cys
NM_001378471.1:c.1482G>C	NP_001365400.1:p.Trp494Cys
NM_001378472.1:c.1437G>C	NP_001365401.1:p.Trp479Cys
NM_001378473.1:c.1437G>C	NP_001365402.1:p.Trp479Cys
NM_001378474.1:c.1593G>C	NP_001365403.1:p.Trp531Cys
NM_001378475.1:c.1329G>C	NP_001365404.1:p.Trp443Cys