Canonical Allele Identifier: CA281989

Gene: BRAF

Linked Data

• dbSNP Id: rs397507482
• MyVariant Identifiers: chr7:g.140453186A>C (hg19) ; chr7:g.140753386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753386A>C , CM000669.2:g.140753386A>C	GRCh38
NC_000007.13:g.140453186A>C , CM000669.1:g.140453186A>C	GRCh37
NC_000007.12:g.140099655A>C	NCBI36
NG_007873.3:g.176379T>G , LRG_299:g.176379T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1749T>G MANE Select	ENSP00000493543.1:p.Phe583Leu
ENST00000288602.11:c.1869T>G	ENSP00000288602.7:p.Phe623Leu
ENST00000479537.6:c.419T>G
ENST00000496384.7:c.1749T>G	ENSP00000419060.2:p.Phe583Leu
ENST00000497784.2:c.*1199T>G	ENSP00000420119.2:n.*1199T>G
ENST00000642228.1:c.*827T>G	ENSP00000493678.1:n.*827T>G
ENST00000642875.1:n.1259-3968T>G
ENST00000644120.1:n.2139T>G
ENST00000644650.1:c.845T>G
ENST00000644905.1:n.2631T>G
ENST00000644969.2:c.1869T>G MANE Plus Clinical	ENSP00000496776.1:p.Phe623Leu
ENST00000646730.1:c.*325T>G	ENSP00000494784.1:n.*325T>G
ENST00000646891.1:c.1749T>G	ENSP00000493543.1:p.Phe583Leu
ENST00000647434.1:c.738-3968T>G	ENSP00000495132.1:n.738-3968T>G
ENST00000288602.10:c.1749T>G	ENSP00000288602.6:p.Phe583Leu
ENST00000479537.5:c.33T>G	ENSP00000418033.1:p.Phe11Leu
ENST00000496384.6:c.572T>G
ENST00000497784.1:c.1784T>G	ENSP00000420119.1:n.1784T>G
NM_004333.4:c.1749T>G , LRG_299t1:c.1749T>G	NP_004324.2:p.Phe583Leu
XM_005250045.1:c.1749T>G	XP_005250102.1:p.Phe583Leu
XM_005250046.1:c.1749T>G	XP_005250103.1:p.Phe583Leu
XM_011516529.1:c.1749T>G	XP_011514831.1:p.Phe583Leu
XM_011516530.1:c.1695-3968T>G	XP_011514832.1:n.1695-3968T>G
XR_242190.1:n.1757T>G
XR_927520.1:n.1757T>G
XR_927521.1:n.1757T>G
XR_927522.1:n.1703-3968T>G
XR_927523.1:n.1703-3968T>G
NM_001354609.1:c.1749T>G	NP_001341538.1:p.Phe583Leu
NM_004333.5:c.1749T>G	NP_004324.2:p.Phe583Leu
NR_148928.1:n.2847T>G
XM_017012558.1:c.1869T>G	XP_016868047.1:p.Phe623Leu
XM_017012559.1:c.1869T>G	XP_016868048.1:p.Phe623Leu
XR_001744857.1:n.1877T>G
XR_001744858.1:n.1823-3968T>G
NM_001354609.2:c.1749T>G	NP_001341538.1:p.Phe583Leu
NM_001374244.1:c.1869T>G	NP_001361173.1:p.Phe623Leu
NM_001374258.1:c.1869T>G MANE Plus Clinical	NP_001361187.1:p.Phe623Leu
NM_004333.6:c.1749T>G MANE Select	NP_004324.2:p.Phe583Leu
NM_001378467.1:c.1758T>G	NP_001365396.1:p.Phe586Leu
NM_001378468.1:c.1749T>G	NP_001365397.1:p.Phe583Leu
NM_001378469.1:c.1683T>G	NP_001365398.1:p.Phe561Leu
NM_001378470.1:c.1647T>G	NP_001365399.1:p.Phe549Leu
NM_001378471.1:c.1638T>G	NP_001365400.1:p.Phe546Leu
NM_001378472.1:c.1593T>G	NP_001365401.1:p.Phe531Leu
NM_001378473.1:c.1593T>G	NP_001365402.1:p.Phe531Leu
NM_001378474.1:c.1749T>G	NP_001365403.1:p.Phe583Leu
NM_001378475.1:c.1485T>G	NP_001365404.1:p.Phe495Leu