Canonical Allele Identifier: CA4714411
Gene: ADRB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2486583
ClinVar RCV Id: RCV004275199
dbSNP Id: rs758511084
gnomAD v2: 8-37823614-A-G
gnomAD v3: 8-37966096-A-G
gnomAD v4: 8-37966096-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37966096A>G , CM000670.2:g.37966096A>G GRCh38
NC_000008.10:g.37823614A>G , CM000670.1:g.37823614A>G GRCh37
NC_000008.9:g.37942771A>G NCBI36
NG_011936.1:g.5571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.374T>C MANE Select ENSP00000343782.3:p.Ile125Thr
ENST00000520341.2:n.502T>C
ENST00000345060.4:c.374T>C ENSP00000343782.3:p.Ile125Thr
ENST00000614635.1:c.374T>C ENSP00000480325.1:p.Ile125Thr
NM_000025.2:c.374T>C NP_000016.1:p.Ile125Thr
NM_000025.3:c.374T>C MANE Select NP_000016.1:p.Ile125Thr