Canonical Allele Identifier: CA216942767
Gene: DRD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2477760
ClinVar RCV Id: RCV003208776
dbSNP Id: rs955881268
gnomAD v2: 11-637531-T-C
gnomAD v3: 11-637531-T-C
gnomAD v4: 11-637531-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.637531T>C , CM000673.2:g.637531T>C GRCh38
NC_000011.9:g.637531T>C , CM000673.1:g.637531T>C GRCh37
NC_000011.8:g.627531T>C NCBI36
NG_021241.1:g.5227T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000176183.6:c.227T>C MANE Select ENSP00000176183.5:p.Leu76Pro
ENST00000176183.5:c.227T>C ENSP00000176183.5:p.Leu76Pro
NM_000797.3:c.227T>C NP_000788.2:p.Leu76Pro
NM_000797.4:c.227T>C MANE Select NP_000788.2:p.Leu76Pro