Canonical Allele Identifier: CA4714350
Gene: ADRB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.37965676G>A
GRCh37 chr8:g.37823194G>A
Revel Score:
ENST00000345060 (MANE Select) 0.026
gnomAD v2:
8:37823194 G / A
gnomAD v3:
8:37965676 G / A
gnomAD v4:
chr8-37965676-G-A
Joint Max Group AF 0.01218293 (AFR)
Genomes Max Group AF 0.01171932 (AFR)
Exomes Max Group AF 0.01215879 (AFR)
dbSNP:
4995
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965676G>A , CM000670.2:g.37965676G>A GRCh38
NC_000008.10:g.37823194G>A , CM000670.1:g.37823194G>A GRCh37
NC_000008.9:g.37942351G>A NCBI36
NG_011936.1:g.5991C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.794C>T MANE Select ENSP00000343782.3:p.Thr265Met
ENST00000520341.2:n.922C>T
ENST00000647937.1:c.278C>T ENSP00000497740.1:p.Thr93Met
ENST00000345060.4:c.794C>T ENSP00000343782.3:p.Thr265Met
ENST00000520341.1:n.69C>T
ENST00000614635.1:c.794C>T ENSP00000480325.1:p.Thr265Met
NM_000025.2:c.794C>T NP_000016.1:p.Thr265Met
NM_000025.3:c.794C>T MANE Select NP_000016.1:p.Thr265Met
Search 100 bp 5'
Search 100 bp 3'