Canonical Allele Identifier: CA369587827

Gene: BRAF

Linked Data

• ClinVar Variation Id: 1677764
• ClinVar RCV Id: RCV002223445 ; RCV002266111 ; RCV003655348
• dbSNP Id: rs1278812236
• gnomAD v2: 7-140476733-C-T
• gnomAD v4: 7-140776933-C-T
• MyVariant Identifiers: chr7:g.140476733C>T (hg19) ; chr7:g.140776933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776933C>T , CM000669.2:g.140776933C>T	GRCh38
NC_000007.13:g.140476733C>T , CM000669.1:g.140476733C>T	GRCh37
NC_000007.12:g.140123202C>T	NCBI36
NG_007873.3:g.152832G>A , LRG_299:g.152832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1673G>A MANE Select	ENSP00000493543.1:p.Arg558Gln
ENST00000288602.11:c.1793G>A	ENSP00000288602.7:p.Arg598Gln
ENST00000479537.6:c.343G>A
ENST00000496384.7:c.1673G>A	ENSP00000419060.2:p.Arg558Gln
ENST00000497784.2:c.*1123G>A	ENSP00000420119.2:n.*1123G>A
ENST00000642228.1:c.*751G>A	ENSP00000493678.1:n.*751G>A
ENST00000642875.1:n.1237G>A
ENST00000644120.1:n.2063G>A
ENST00000644650.1:c.769G>A
ENST00000644905.1:n.1762G>A
ENST00000644969.2:c.1793G>A MANE Plus Clinical	ENSP00000496776.1:p.Arg598Gln
ENST00000646730.1:c.1673G>A	ENSP00000494784.1:p.Arg558Gln
ENST00000646891.1:c.1673G>A	ENSP00000493543.1:p.Arg558Gln
ENST00000647434.1:c.716G>A	ENSP00000495132.1:p.Arg239Gln
ENST00000288602.10:c.1673G>A	ENSP00000288602.6:p.Arg558Gln
ENST00000496384.6:c.496G>A
ENST00000497784.1:c.1708G>A	ENSP00000420119.1:n.1708G>A
NM_004333.4:c.1673G>A , LRG_299t1:c.1673G>A	NP_004324.2:p.Arg558Gln
XM_005250045.1:c.1673G>A	XP_005250102.1:p.Arg558Gln
XM_005250046.1:c.1673G>A	XP_005250103.1:p.Arg558Gln
XM_011516529.1:c.1673G>A	XP_011514831.1:p.Arg558Gln
XM_011516530.1:c.1673G>A	XP_011514832.1:p.Arg558Gln
XR_242190.1:n.1681G>A
XR_927520.1:n.1681G>A
XR_927521.1:n.1681G>A
XR_927522.1:n.1681G>A
XR_927523.1:n.1681G>A
NM_001354609.1:c.1673G>A	NP_001341538.1:p.Arg558Gln
NM_004333.5:c.1673G>A	NP_004324.2:p.Arg558Gln
NR_148928.1:n.1978G>A
XM_017012558.1:c.1793G>A	XP_016868047.1:p.Arg598Gln
XM_017012559.1:c.1793G>A	XP_016868048.1:p.Arg598Gln
XR_001744857.1:n.1801G>A
XR_001744858.1:n.1801G>A
NM_001354609.2:c.1673G>A	NP_001341538.1:p.Arg558Gln
NM_001374244.1:c.1793G>A	NP_001361173.1:p.Arg598Gln
NM_001374258.1:c.1793G>A MANE Plus Clinical	NP_001361187.1:p.Arg598Gln
NM_004333.6:c.1673G>A MANE Select	NP_004324.2:p.Arg558Gln
NM_001378467.1:c.1682G>A	NP_001365396.1:p.Arg561Gln
NM_001378468.1:c.1673G>A	NP_001365397.1:p.Arg558Gln
NM_001378469.1:c.1607G>A	NP_001365398.1:p.Arg536Gln
NM_001378470.1:c.1571G>A	NP_001365399.1:p.Arg524Gln
NM_001378471.1:c.1562G>A	NP_001365400.1:p.Arg521Gln
NM_001378472.1:c.1517G>A	NP_001365401.1:p.Arg506Gln
NM_001378473.1:c.1517G>A	NP_001365402.1:p.Arg506Gln
NM_001378474.1:c.1673G>A	NP_001365403.1:p.Arg558Gln
NM_001378475.1:c.1409G>A	NP_001365404.1:p.Arg470Gln