Canonical Allele Identifier: CA5785873
Gene: DRD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2217049
ClinVar RCV Id: RCV004082899
dbSNP Id: rs780003868
gnomAD v2: 11-640183-C-T
gnomAD v3: 11-640183-C-T
gnomAD v4: 11-640183-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.640183C>T , CM000673.2:g.640183C>T GRCh38
NC_000011.9:g.640183C>T , CM000673.1:g.640183C>T GRCh37
NC_000011.8:g.630183C>T NCBI36
NG_021241.1:g.7879C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000176183.6:c.934C>T MANE Select ENSP00000176183.5:p.Pro312Ser
ENST00000176183.5:c.934C>T ENSP00000176183.5:p.Pro312Ser
NM_000797.3:c.934C>T NP_000788.2:p.Pro312Ser
NM_000797.4:c.934C>T MANE Select NP_000788.2:p.Pro312Ser