This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA370694362
Gene: ADRB3 HGNC NCBI
gnomAD v4:
chr8-37965810-C-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
MyVariant.info:
GRCh38 chr8:g.37965810C>T
GRCh37 chr8:g.37823328C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965810C>T , CM000670.2:g.37965810C>T GRCh38
NC_000008.10:g.37823328C>T , CM000670.1:g.37823328C>T GRCh37
NC_000008.9:g.37942485C>T NCBI36
NG_011936.1:g.5857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.660G>A MANE Select ENSP00000343782.3:p.Met220Ile
ENST00000520341.2:n.788G>A
ENST00000647937.1:c.144G>A ENSP00000497740.1:p.Met48Ile
ENST00000345060.4:c.660G>A ENSP00000343782.3:p.Met220Ile
ENST00000614635.1:c.660G>A ENSP00000480325.1:p.Met220Ile
NM_000025.2:c.660G>A NP_000016.1:p.Met220Ile
NM_000025.3:c.660G>A MANE Select NP_000016.1:p.Met220Ile
Search 100 bp 5'
Search 100 bp 3'