Canonical Allele Identifier: CA305780527
Gene: BRD4 HGNC NCBI
ClinVar RCV:
RCV003728216
ClinVar Variation:
2895066
COSMIC:
COSM6213687
dbSNP:
912468726
gnomAD v4:
chr19-15238400-T-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
MyVariant.info:
GRCh38 chr19:g.15238400T>C
GRCh37 chr19:g.15349211T>C
Revel Score:
ENST00000263377 0.153
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15238400T>C , CM000681.2:g.15238400T>C GRCh38
NC_000019.9:g.15349211T>C , CM000681.1:g.15349211T>C GRCh37
NC_000019.8:g.15210211T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679869.1:c.4066A>G MANE Select ENSP00000506350.1:p.Ile1356Val
ENST00000263377.6:c.4066A>G ENSP00000263377.1:p.Ile1356Val
NM_058243.2:c.4066A>G NP_490597.1:p.Ile1356Val
XM_011527854.1:c.4066A>G XP_011526156.1:p.Ile1356Val
XM_011527854.2:c.4066A>G XP_011526156.1:p.Ile1356Val
NM_001379291.1:c.4066A>G MANE Select NP_001366220.1:p.Ile1356Val
NM_058243.3:c.4066A>G NP_490597.1:p.Ile1356Val
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