Canonical Allele Identifier: CA369588294

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018576
• MyVariant Identifiers: chr7:g.140476869T>A (hg19) ; chr7:g.140777069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777069T>A , CM000669.2:g.140777069T>A	GRCh38
NC_000007.13:g.140476869T>A , CM000669.1:g.140476869T>A	GRCh37
NC_000007.12:g.140123338T>A	NCBI36
NG_007873.3:g.152696A>T , LRG_299:g.152696A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1537A>T MANE Select	ENSP00000493543.1:p.Ile513Phe
ENST00000288602.11:c.1657A>T	ENSP00000288602.7:p.Ile553Phe
ENST00000479537.6:c.207A>T
ENST00000496384.7:c.1537A>T	ENSP00000419060.2:p.Ile513Phe
ENST00000497784.2:c.*987A>T	ENSP00000420119.2:n.*987A>T
ENST00000642228.1:c.*615A>T	ENSP00000493678.1:n.*615A>T
ENST00000642875.1:n.1101A>T
ENST00000644120.1:n.1927A>T
ENST00000644650.1:c.633A>T
ENST00000644905.1:n.1626A>T
ENST00000644969.2:c.1657A>T MANE Plus Clinical	ENSP00000496776.1:p.Ile553Phe
ENST00000646730.1:c.1537A>T	ENSP00000494784.1:p.Ile513Phe
ENST00000646891.1:c.1537A>T	ENSP00000493543.1:p.Ile513Phe
ENST00000647434.1:c.580A>T	ENSP00000495132.1:p.Ile194Phe
ENST00000288602.10:c.1537A>T	ENSP00000288602.6:p.Ile513Phe
ENST00000496384.6:c.360A>T
ENST00000497784.1:c.1572A>T	ENSP00000420119.1:n.1572A>T
NM_004333.4:c.1537A>T , LRG_299t1:c.1537A>T	NP_004324.2:p.Ile513Phe
XM_005250045.1:c.1537A>T	XP_005250102.1:p.Ile513Phe
XM_005250046.1:c.1537A>T	XP_005250103.1:p.Ile513Phe
XM_011516529.1:c.1537A>T	XP_011514831.1:p.Ile513Phe
XM_011516530.1:c.1537A>T	XP_011514832.1:p.Ile513Phe
XR_242190.1:n.1545A>T
XR_927520.1:n.1545A>T
XR_927521.1:n.1545A>T
XR_927522.1:n.1545A>T
XR_927523.1:n.1545A>T
NM_001354609.1:c.1537A>T	NP_001341538.1:p.Ile513Phe
NM_004333.5:c.1537A>T	NP_004324.2:p.Ile513Phe
NR_148928.1:n.1842A>T
XM_017012558.1:c.1657A>T	XP_016868047.1:p.Ile553Phe
XM_017012559.1:c.1657A>T	XP_016868048.1:p.Ile553Phe
XR_001744857.1:n.1665A>T
XR_001744858.1:n.1665A>T
NM_001354609.2:c.1537A>T	NP_001341538.1:p.Ile513Phe
NM_001374244.1:c.1657A>T	NP_001361173.1:p.Ile553Phe
NM_001374258.1:c.1657A>T MANE Plus Clinical	NP_001361187.1:p.Ile553Phe
NM_004333.6:c.1537A>T MANE Select	NP_004324.2:p.Ile513Phe
NM_001378467.1:c.1546A>T	NP_001365396.1:p.Ile516Phe
NM_001378468.1:c.1537A>T	NP_001365397.1:p.Ile513Phe
NM_001378469.1:c.1471A>T	NP_001365398.1:p.Ile491Phe
NM_001378470.1:c.1435A>T	NP_001365399.1:p.Ile479Phe
NM_001378471.1:c.1426A>T	NP_001365400.1:p.Ile476Phe
NM_001378472.1:c.1381A>T	NP_001365401.1:p.Ile461Phe
NM_001378473.1:c.1381A>T	NP_001365402.1:p.Ile461Phe
NM_001378474.1:c.1537A>T	NP_001365403.1:p.Ile513Phe
NM_001378475.1:c.1273A>T	NP_001365404.1:p.Ile425Phe