Canonical Allele Identifier: CA369543348
Gene: BRAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140753387A>G , CM000669.2:g.140753387A>G GRCh38
NC_000007.13:g.140453187A>G , CM000669.1:g.140453187A>G GRCh37
NC_000007.12:g.140099656A>G NCBI36
NG_007873.3:g.176378T>C , LRG_299:g.176378T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1748T>C MANE Select ENSP00000493543.1:p.Phe583Ser
ENST00000288602.11:c.1868T>C ENSP00000288602.7:p.Phe623Ser
ENST00000479537.6:c.418T>C
ENST00000496384.7:c.1748T>C ENSP00000419060.2:p.Phe583Ser
ENST00000497784.2:c.*1198T>C ENSP00000420119.2:n.*1198T>C
ENST00000642228.1:c.*826T>C ENSP00000493678.1:n.*826T>C
ENST00000642875.1:n.1259-3969T>C
ENST00000644120.1:n.2138T>C
ENST00000644650.1:c.844T>C
ENST00000644905.1:n.2630T>C
ENST00000644969.2:c.1868T>C MANE Plus Clinical ENSP00000496776.1:p.Phe623Ser
ENST00000646730.1:c.*324T>C ENSP00000494784.1:n.*324T>C
ENST00000646891.1:c.1748T>C ENSP00000493543.1:p.Phe583Ser
ENST00000647434.1:c.738-3969T>C ENSP00000495132.1:n.738-3969T>C
ENST00000288602.10:c.1748T>C ENSP00000288602.6:p.Phe583Ser
ENST00000479537.5:c.32T>C ENSP00000418033.1:p.Phe11Ser
ENST00000496384.6:c.571T>C
ENST00000497784.1:c.1783T>C ENSP00000420119.1:n.1783T>C
NM_004333.4:c.1748T>C , LRG_299t1:c.1748T>C NP_004324.2:p.Phe583Ser
XM_005250045.1:c.1748T>C XP_005250102.1:p.Phe583Ser
XM_005250046.1:c.1748T>C XP_005250103.1:p.Phe583Ser
XM_011516529.1:c.1748T>C XP_011514831.1:p.Phe583Ser
XM_011516530.1:c.1695-3969T>C XP_011514832.1:n.1695-3969T>C
XR_242190.1:n.1756T>C
XR_927520.1:n.1756T>C
XR_927521.1:n.1756T>C
XR_927522.1:n.1703-3969T>C
XR_927523.1:n.1703-3969T>C
NM_001354609.1:c.1748T>C NP_001341538.1:p.Phe583Ser
NM_004333.5:c.1748T>C NP_004324.2:p.Phe583Ser
NR_148928.1:n.2846T>C
XM_017012558.1:c.1868T>C XP_016868047.1:p.Phe623Ser
XM_017012559.1:c.1868T>C XP_016868048.1:p.Phe623Ser
XR_001744857.1:n.1876T>C
XR_001744858.1:n.1823-3969T>C
NM_001354609.2:c.1748T>C NP_001341538.1:p.Phe583Ser
NM_001374244.1:c.1868T>C NP_001361173.1:p.Phe623Ser
NM_001374258.1:c.1868T>C MANE Plus Clinical NP_001361187.1:p.Phe623Ser
NM_004333.6:c.1748T>C MANE Select NP_004324.2:p.Phe583Ser
NM_001378467.1:c.1757T>C NP_001365396.1:p.Phe586Ser
NM_001378468.1:c.1748T>C NP_001365397.1:p.Phe583Ser
NM_001378469.1:c.1682T>C NP_001365398.1:p.Phe561Ser
NM_001378470.1:c.1646T>C NP_001365399.1:p.Phe549Ser
NM_001378471.1:c.1637T>C NP_001365400.1:p.Phe546Ser
NM_001378472.1:c.1592T>C NP_001365401.1:p.Phe531Ser
NM_001378473.1:c.1592T>C NP_001365402.1:p.Phe531Ser
NM_001378474.1:c.1748T>C NP_001365403.1:p.Phe583Ser
NM_001378475.1:c.1484T>C NP_001365404.1:p.Phe495Ser