Canonical Allele Identifier: CA9264516
Gene: BRD4 HGNC NCBI
ClinVar RCV:
RCV002750438
ClinVar Variation:
1972966
COSMIC:
COSM5883045
dbSNP:
201420374
gnomAD v2:
19:15349760 C / T
gnomAD v4:
chr19-15238949-C-T
Joint Max Group AF 0.00000882 (NFE)
Exomes Max Group AF 0.00000936 (NFE)
MyVariant.info:
GRCh38 chr19:g.15238949C>T
GRCh37 chr19:g.15349760C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15238949C>T , CM000681.2:g.15238949C>T GRCh38
NC_000019.9:g.15349760C>T , CM000681.1:g.15349760C>T GRCh37
NC_000019.8:g.15210760C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679869.1:c.3814G>A MANE Select ENSP00000506350.1:p.Ala1272Thr
ENST00000263377.6:c.3814G>A ENSP00000263377.1:p.Ala1272Thr
NM_058243.2:c.3814G>A NP_490597.1:p.Ala1272Thr
XM_011527854.1:c.3814G>A XP_011526156.1:p.Ala1272Thr
XM_011527854.2:c.3814G>A XP_011526156.1:p.Ala1272Thr
NM_001379291.1:c.3814G>A MANE Select NP_001366220.1:p.Ala1272Thr
NM_058243.3:c.3814G>A NP_490597.1:p.Ala1272Thr
Search 100 bp 5'
Search 100 bp 3'