Canonical Allele Identifier: CA16602815

Gene: BRAF

Linked Data

• ClinVar Variation Id: 376376
• ClinVar RCV Id: RCV000419907 ; RCV000422334 ; RCV000429764 ; RCV000430791 ; RCV000440423 ; RCV000440655 ; RCV001355069
• dbSNP Id: rs121913370
• gnomAD v4: 7-140753393-T-G
• COSMIC: COSM1699452
• MyVariant Identifiers: chr7:g.140453193T>G (hg19) ; chr7:g.140753393T>G (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753393T>G , CM000669.2:g.140753393T>G	GRCh38
NC_000007.13:g.140453193T>G , CM000669.1:g.140453193T>G	GRCh37
NC_000007.12:g.140099662T>G	NCBI36
NG_007873.3:g.176372A>C , LRG_299:g.176372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1742A>C MANE Select	ENSP00000493543.1:p.Asn581Thr
ENST00000288602.11:c.1862A>C	ENSP00000288602.7:p.Asn621Thr
ENST00000479537.6:c.412A>C
ENST00000496384.7:c.1742A>C	ENSP00000419060.2:p.Asn581Thr
ENST00000497784.2:c.*1192A>C	ENSP00000420119.2:n.*1192A>C
ENST00000642228.1:c.*820A>C	ENSP00000493678.1:n.*820A>C
ENST00000642875.1:n.1259-3975A>C
ENST00000644120.1:n.2132A>C
ENST00000644650.1:c.838A>C
ENST00000644905.1:n.2624A>C
ENST00000644969.2:c.1862A>C MANE Plus Clinical	ENSP00000496776.1:p.Asn621Thr
ENST00000646730.1:c.*318A>C	ENSP00000494784.1:n.*318A>C
ENST00000646891.1:c.1742A>C	ENSP00000493543.1:p.Asn581Thr
ENST00000647434.1:c.738-3975A>C	ENSP00000495132.1:n.738-3975A>C
ENST00000288602.10:c.1742A>C	ENSP00000288602.6:p.Asn581Thr
ENST00000479537.5:c.26A>C	ENSP00000418033.1:p.Asn9Thr
ENST00000496384.6:c.565A>C
ENST00000497784.1:c.1777A>C	ENSP00000420119.1:n.1777A>C
NM_004333.4:c.1742A>C , LRG_299t1:c.1742A>C	NP_004324.2:p.Asn581Thr
XM_005250045.1:c.1742A>C	XP_005250102.1:p.Asn581Thr
XM_005250046.1:c.1742A>C	XP_005250103.1:p.Asn581Thr
XM_011516529.1:c.1742A>C	XP_011514831.1:p.Asn581Thr
XM_011516530.1:c.1695-3975A>C	XP_011514832.1:n.1695-3975A>C
XR_242190.1:n.1750A>C
XR_927520.1:n.1750A>C
XR_927521.1:n.1750A>C
XR_927522.1:n.1703-3975A>C
XR_927523.1:n.1703-3975A>C
NM_001354609.1:c.1742A>C	NP_001341538.1:p.Asn581Thr
NM_004333.5:c.1742A>C	NP_004324.2:p.Asn581Thr
NR_148928.1:n.2840A>C
XM_017012558.1:c.1862A>C	XP_016868047.1:p.Asn621Thr
XM_017012559.1:c.1862A>C	XP_016868048.1:p.Asn621Thr
XR_001744857.1:n.1870A>C
XR_001744858.1:n.1823-3975A>C
NM_001354609.2:c.1742A>C	NP_001341538.1:p.Asn581Thr
NM_001374244.1:c.1862A>C	NP_001361173.1:p.Asn621Thr
NM_001374258.1:c.1862A>C MANE Plus Clinical	NP_001361187.1:p.Asn621Thr
NM_004333.6:c.1742A>C MANE Select	NP_004324.2:p.Asn581Thr
NM_001378467.1:c.1751A>C	NP_001365396.1:p.Asn584Thr
NM_001378468.1:c.1742A>C	NP_001365397.1:p.Asn581Thr
NM_001378469.1:c.1676A>C	NP_001365398.1:p.Asn559Thr
NM_001378470.1:c.1640A>C	NP_001365399.1:p.Asn547Thr
NM_001378471.1:c.1631A>C	NP_001365400.1:p.Asn544Thr
NM_001378472.1:c.1586A>C	NP_001365401.1:p.Asn529Thr
NM_001378473.1:c.1586A>C	NP_001365402.1:p.Asn529Thr
NM_001378474.1:c.1742A>C	NP_001365403.1:p.Asn581Thr
NM_001378475.1:c.1478A>C	NP_001365404.1:p.Asn493Thr