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: CA370693553
Gene: ADRB3 HGNC NCBI
gnomAD v4:
chr8-37965703-C-T
MyVariant.info:
GRCh38 chr8:g.37965703C>T
GRCh37 chr8:g.37823221C>T
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37965703C>T , CM000670.2:g.37965703C>T GRCh38
NC_000008.10:g.37823221C>T , CM000670.1:g.37823221C>T GRCh37
NC_000008.9:g.37942378C>T NCBI36
NG_011936.1:g.5964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000345060.5:c.767G>A MANE Select ENSP00000343782.3:p.Arg256His
ENST00000520341.2:n.895G>A
ENST00000647937.1:c.251G>A ENSP00000497740.1:p.Arg84His
ENST00000345060.4:c.767G>A ENSP00000343782.3:p.Arg256His
ENST00000520341.1:n.42G>A
ENST00000614635.1:c.767G>A ENSP00000480325.1:p.Arg256His
NM_000025.2:c.767G>A NP_000016.1:p.Arg256His
NM_000025.3:c.767G>A MANE Select NP_000016.1:p.Arg256His
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