Canonical Allele Identifier: CA126864
Gene: DRD4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.639830T>G
GRCh37 chr11:g.639830T>G
Revel Score:
ENST00000176183 (MANE Select) 0.546
gnomAD v2:
11:639830 T / G
gnomAD v3:
11:639830 T / G
gnomAD v4:
chr11-639830-T-G
Joint Max Group AF 0.05199336 (AFR)
Genomes Max Group AF 0.05231227 (AFR)
Exomes Max Group AF 0.05028755 (AFR)
ClinVar RCV:
RCV000018255
ClinVar Variation:
16768
dbSNP:
1800443
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.639830T>G , CM000673.2:g.639830T>G GRCh38
NC_000011.9:g.639830T>G , CM000673.1:g.639830T>G GRCh37
NC_000011.8:g.629830T>G NCBI36
NG_021241.1:g.7526T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000176183.6:c.581T>G MANE Select ENSP00000176183.5:p.Val194Gly
ENST00000176183.5:c.581T>G ENSP00000176183.5:p.Val194Gly
NM_000797.3:c.581T>G NP_000788.2:p.Val194Gly
NM_000797.4:c.581T>G MANE Select NP_000788.2:p.Val194Gly
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