Canonical Allele Identifier: CA369540978

Gene: BRAF

Linked Data

• dbSNP Id: rs1797602418
• MyVariant Identifiers: chr7:g.140449167C>G (hg19) ; chr7:g.140749367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140749367C>G , CM000669.2:g.140749367C>G	GRCh38
NC_000007.13:g.140449167C>G , CM000669.1:g.140449167C>G	GRCh37
NC_000007.12:g.140095636C>G	NCBI36
NG_007873.3:g.180398G>C , LRG_299:g.180398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1912G>C MANE Select	ENSP00000493543.1:p.Asp638His
ENST00000288602.11:c.2032G>C	ENSP00000288602.7:p.Asp678His
ENST00000479537.6:c.582G>C
ENST00000496384.7:c.1912G>C	ENSP00000419060.2:p.Asp638His
ENST00000497784.2:c.*1362G>C	ENSP00000420119.2:n.*1362G>C
ENST00000642228.1:c.*990G>C	ENSP00000493678.1:n.*990G>C
ENST00000642875.1:n.1310G>C
ENST00000644120.1:n.2302G>C
ENST00000644650.1:c.1008G>C
ENST00000644905.1:n.2794G>C
ENST00000644969.2:c.2032G>C MANE Plus Clinical	ENSP00000496776.1:p.Asp678His
ENST00000646730.1:c.*488G>C	ENSP00000494784.1:n.*488G>C
ENST00000646891.1:c.1912G>C	ENSP00000493543.1:p.Asp638His
ENST00000647434.1:c.789G>C	ENSP00000495132.1:p.Gln263His
ENST00000288602.10:c.1912G>C	ENSP00000288602.6:p.Asp638His
ENST00000479537.5:c.196G>C	ENSP00000418033.1:p.Asp66His
ENST00000496384.6:c.735G>C
ENST00000497784.1:c.1947G>C	ENSP00000420119.1:n.1947G>C
NM_004333.4:c.1912G>C , LRG_299t1:c.1912G>C	NP_004324.2:p.Asp638His
XM_005250045.1:c.1912G>C	XP_005250102.1:p.Asp638His
XM_005250046.1:c.1912G>C	XP_005250103.1:p.Asp638His
XM_011516529.1:c.1912G>C	XP_011514831.1:p.Asp638His
XM_011516530.1:c.1746G>C	XP_011514832.1:p.Gln582His
XR_242190.1:n.1920G>C
XR_927520.1:n.1920G>C
XR_927521.1:n.1920G>C
XR_927522.1:n.1754G>C
XR_927523.1:n.1754G>C
NM_001354609.1:c.1912G>C	NP_001341538.1:p.Asp638His
NM_004333.5:c.1912G>C	NP_004324.2:p.Asp638His
NR_148928.1:n.3010G>C
XM_017012558.1:c.2032G>C	XP_016868047.1:p.Asp678His
XM_017012559.1:c.2032G>C	XP_016868048.1:p.Asp678His
XR_001744857.1:n.2040G>C
XR_001744858.1:n.1874G>C
NM_001354609.2:c.1912G>C	NP_001341538.1:p.Asp638His
NM_001374244.1:c.2032G>C	NP_001361173.1:p.Asp678His
NM_001374258.1:c.2032G>C MANE Plus Clinical	NP_001361187.1:p.Asp678His
NM_004333.6:c.1912G>C MANE Select	NP_004324.2:p.Asp638His
NM_001378467.1:c.1921G>C	NP_001365396.1:p.Asp641His
NM_001378468.1:c.1912G>C	NP_001365397.1:p.Asp638His
NM_001378469.1:c.1846G>C	NP_001365398.1:p.Asp616His
NM_001378470.1:c.1810G>C	NP_001365399.1:p.Asp604His
NM_001378471.1:c.1801G>C	NP_001365400.1:p.Asp601His
NM_001378472.1:c.1756G>C	NP_001365401.1:p.Asp586His
NM_001378473.1:c.1756G>C	NP_001365402.1:p.Asp586His
NM_001378474.1:c.1912G>C	NP_001365403.1:p.Asp638His
NM_001378475.1:c.1648G>C	NP_001365404.1:p.Asp550His