Canonical Allele Identifier: CA9264517
Gene: BRD4 HGNC NCBI
ClinVar RCV:
RCV000955222
RCV003915866
ClinVar Variation:
775116
COSMIC:
COSM1318365
dbSNP:
113881069
gnomAD v2:
19:15349764 C / G
gnomAD v3:
19:15238953 C / G
gnomAD v4:
chr19-15238953-C-G
Joint Max Group AF 0.0082506 (NFE)
Genomes Max Group AF 0.00765335 (NFE)
Exomes Max Group AF 0.0082565 (NFE)
MyVariant.info:
GRCh38 chr19:g.15238953C>G
GRCh37 chr19:g.15349764C>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15238953C>G , CM000681.2:g.15238953C>G GRCh38
NC_000019.9:g.15349764C>G , CM000681.1:g.15349764C>G GRCh37
NC_000019.8:g.15210764C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679869.1:c.3810G>C MANE Select ENSP00000506350.1:p.Glu1270Asp
ENST00000263377.6:c.3810G>C ENSP00000263377.1:p.Glu1270Asp
NM_058243.2:c.3810G>C NP_490597.1:p.Glu1270Asp
XM_011527854.1:c.3810G>C XP_011526156.1:p.Glu1270Asp
XM_011527854.2:c.3810G>C XP_011526156.1:p.Glu1270Asp
NM_001379291.1:c.3810G>C MANE Select NP_001366220.1:p.Glu1270Asp
NM_058243.3:c.3810G>C NP_490597.1:p.Glu1270Asp
Search 100 bp 5'
Search 100 bp 3'