Canonical Allele Identifier: CA4714395
Gene: ADRB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.37966012C>A
GRCh37 chr8:g.37823530C>A
Revel Score:
ENST00000345060 (MANE Select) 0.175
gnomAD v2:
8:37823530 C / A
gnomAD v3:
8:37966012 C / A
gnomAD v4:
chr8-37966012-C-A
Joint Max Group AF 0.00016274 (SAS)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.00015253 (SAS)
ClinVar RCV:
RCV005318113
ClinVar Variation:
3839269
dbSNP:
781134352
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37966012C>A , CM000670.2:g.37966012C>A GRCh38
NC_000008.10:g.37823530C>A , CM000670.1:g.37823530C>A GRCh37
NC_000008.9:g.37942687C>A NCBI36
NG_011936.1:g.5655G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.458G>T MANE Select ENSP00000343782.3:p.Cys153Phe
ENST00000520341.2:n.586G>T
ENST00000345060.4:c.458G>T ENSP00000343782.3:p.Cys153Phe
ENST00000614635.1:c.458G>T ENSP00000480325.1:p.Cys153Phe
NM_000025.2:c.458G>T NP_000016.1:p.Cys153Phe
NM_000025.3:c.458G>T MANE Select NP_000016.1:p.Cys153Phe
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