Canonical Allele Identifier: CA369588444

Gene: BRAF

Linked Data

• dbSNP Id: rs2129019613
• gnomAD v4: 7-140778036-G-A
• MyVariant Identifiers: chr7:g.140477836G>A (hg19) ; chr7:g.140778036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778036G>A , CM000669.2:g.140778036G>A	GRCh38
NC_000007.13:g.140477836G>A , CM000669.1:g.140477836G>A	GRCh37
NC_000007.12:g.140124305G>A	NCBI36
NG_007873.3:g.151729C>T , LRG_299:g.151729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1472C>T MANE Select	ENSP00000493543.1:p.Thr491Ile
ENST00000288602.11:c.1592C>T	ENSP00000288602.7:p.Thr531Ile
ENST00000479537.6:c.142C>T
ENST00000496384.7:c.1472C>T	ENSP00000419060.2:p.Thr491Ile
ENST00000497784.2:c.*922C>T	ENSP00000420119.2:n.*922C>T
ENST00000642228.1:c.*550C>T	ENSP00000493678.1:n.*550C>T
ENST00000642875.1:n.1036C>T
ENST00000644120.1:n.1862C>T
ENST00000644650.1:c.568C>T
ENST00000644905.1:n.1561C>T
ENST00000644969.2:c.1592C>T MANE Plus Clinical	ENSP00000496776.1:p.Thr531Ile
ENST00000646730.1:c.1472C>T	ENSP00000494784.1:p.Thr491Ile
ENST00000646891.1:c.1472C>T	ENSP00000493543.1:p.Thr491Ile
ENST00000647434.1:c.515C>T	ENSP00000495132.1:p.Thr172Ile
ENST00000288602.10:c.1472C>T	ENSP00000288602.6:p.Thr491Ile
ENST00000496384.6:c.295C>T
ENST00000497784.1:c.1507C>T	ENSP00000420119.1:n.1507C>T
NM_004333.4:c.1472C>T , LRG_299t1:c.1472C>T	NP_004324.2:p.Thr491Ile
XM_005250045.1:c.1472C>T	XP_005250102.1:p.Thr491Ile
XM_005250046.1:c.1472C>T	XP_005250103.1:p.Thr491Ile
XM_011516529.1:c.1472C>T	XP_011514831.1:p.Thr491Ile
XM_011516530.1:c.1472C>T	XP_011514832.1:p.Thr491Ile
XR_242190.1:n.1480C>T
XR_927520.1:n.1480C>T
XR_927521.1:n.1480C>T
XR_927522.1:n.1480C>T
XR_927523.1:n.1480C>T
NM_001354609.1:c.1472C>T	NP_001341538.1:p.Thr491Ile
NM_004333.5:c.1472C>T	NP_004324.2:p.Thr491Ile
NR_148928.1:n.1777C>T
XM_017012558.1:c.1592C>T	XP_016868047.1:p.Thr531Ile
XM_017012559.1:c.1592C>T	XP_016868048.1:p.Thr531Ile
XR_001744857.1:n.1600C>T
XR_001744858.1:n.1600C>T
NM_001354609.2:c.1472C>T	NP_001341538.1:p.Thr491Ile
NM_001374244.1:c.1592C>T	NP_001361173.1:p.Thr531Ile
NM_001374258.1:c.1592C>T MANE Plus Clinical	NP_001361187.1:p.Thr531Ile
NM_004333.6:c.1472C>T MANE Select	NP_004324.2:p.Thr491Ile
NM_001378467.1:c.1481C>T	NP_001365396.1:p.Thr494Ile
NM_001378468.1:c.1472C>T	NP_001365397.1:p.Thr491Ile
NM_001378469.1:c.1406C>T	NP_001365398.1:p.Thr469Ile
NM_001378470.1:c.1370C>T	NP_001365399.1:p.Thr457Ile
NM_001378471.1:c.1361C>T	NP_001365400.1:p.Thr454Ile
NM_001378472.1:c.1316C>T	NP_001365401.1:p.Thr439Ile
NM_001378473.1:c.1316C>T	NP_001365402.1:p.Thr439Ile
NM_001378474.1:c.1472C>T	NP_001365403.1:p.Thr491Ile
NM_001378475.1:c.1208C>T	NP_001365404.1:p.Thr403Ile