Canonical Allele Identifier: CA16602813

Gene: BRAF

Linked Data

• ClinVar Variation Id: 376374
• ClinVar RCV Id: RCV000422893 ; RCV000423119 ; RCV000433824 ; RCV000442552
• dbSNP Id: rs121913361
• MyVariant Identifiers: chr7:g.140453149C>T (hg19) ; chr7:g.140753349C>T (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753349C>T , CM000669.2:g.140753349C>T	GRCh38
NC_000007.13:g.140453149C>T , CM000669.1:g.140453149C>T	GRCh37
NC_000007.12:g.140099618C>T	NCBI36
NG_007873.3:g.176416G>A , LRG_299:g.176416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1786G>A MANE Select	ENSP00000493543.1:p.Gly596Ser
ENST00000288602.11:c.1906G>A	ENSP00000288602.7:p.Gly636Ser
ENST00000479537.6:c.456G>A
ENST00000496384.7:c.1786G>A	ENSP00000419060.2:p.Gly596Ser
ENST00000497784.2:c.*1236G>A	ENSP00000420119.2:n.*1236G>A
ENST00000642228.1:c.*864G>A	ENSP00000493678.1:n.*864G>A
ENST00000642875.1:n.1259-3931G>A
ENST00000644120.1:n.2176G>A
ENST00000644650.1:c.882G>A
ENST00000644905.1:n.2668G>A
ENST00000644969.2:c.1906G>A MANE Plus Clinical	ENSP00000496776.1:p.Gly636Ser
ENST00000646730.1:c.*362G>A	ENSP00000494784.1:n.*362G>A
ENST00000646891.1:c.1786G>A	ENSP00000493543.1:p.Gly596Ser
ENST00000647434.1:c.738-3931G>A	ENSP00000495132.1:n.738-3931G>A
ENST00000288602.10:c.1786G>A	ENSP00000288602.6:p.Gly596Ser
ENST00000479537.5:c.70G>A	ENSP00000418033.1:p.Gly24Ser
ENST00000496384.6:c.609G>A
ENST00000497784.1:c.1821G>A	ENSP00000420119.1:n.1821G>A
NM_004333.4:c.1786G>A , LRG_299t1:c.1786G>A	NP_004324.2:p.Gly596Ser
XM_005250045.1:c.1786G>A	XP_005250102.1:p.Gly596Ser
XM_005250046.1:c.1786G>A	XP_005250103.1:p.Gly596Ser
XM_011516529.1:c.1786G>A	XP_011514831.1:p.Gly596Ser
XM_011516530.1:c.1695-3931G>A	XP_011514832.1:n.1695-3931G>A
XR_242190.1:n.1794G>A
XR_927520.1:n.1794G>A
XR_927521.1:n.1794G>A
XR_927522.1:n.1703-3931G>A
XR_927523.1:n.1703-3931G>A
NM_001354609.1:c.1786G>A	NP_001341538.1:p.Gly596Ser
NM_004333.5:c.1786G>A	NP_004324.2:p.Gly596Ser
NR_148928.1:n.2884G>A
XM_017012558.1:c.1906G>A	XP_016868047.1:p.Gly636Ser
XM_017012559.1:c.1906G>A	XP_016868048.1:p.Gly636Ser
XR_001744857.1:n.1914G>A
XR_001744858.1:n.1823-3931G>A
NM_001354609.2:c.1786G>A	NP_001341538.1:p.Gly596Ser
NM_001374244.1:c.1906G>A	NP_001361173.1:p.Gly636Ser
NM_001374258.1:c.1906G>A MANE Plus Clinical	NP_001361187.1:p.Gly636Ser
NM_004333.6:c.1786G>A MANE Select	NP_004324.2:p.Gly596Ser
NM_001378467.1:c.1795G>A	NP_001365396.1:p.Gly599Ser
NM_001378468.1:c.1786G>A	NP_001365397.1:p.Gly596Ser
NM_001378469.1:c.1720G>A	NP_001365398.1:p.Gly574Ser
NM_001378470.1:c.1684G>A	NP_001365399.1:p.Gly562Ser
NM_001378471.1:c.1675G>A	NP_001365400.1:p.Gly559Ser
NM_001378472.1:c.1630G>A	NP_001365401.1:p.Gly544Ser
NM_001378473.1:c.1630G>A	NP_001365402.1:p.Gly544Ser
NM_001378474.1:c.1786G>A	NP_001365403.1:p.Gly596Ser
NM_001378475.1:c.1522G>A	NP_001365404.1:p.Gly508Ser