Canonical Allele Identifier: CA127365

Gene: ADRB1

Linked Data

• ClinVar Variation Id: 17746
• ClinVar RCV Id: RCV000019322 ; RCV002508776 ; RCV003974844
• dbSNP Id: rs1801253
• ExAC: 10:115805056 G / C
• gnomAD v2: 10-115805056-G-C
• gnomAD v3: 10-114045297-G-C
• gnomAD v4: 10-114045297-G-C
• MyVariant Identifiers: chr10:g.115805056G>C (hg19) ; chr10:g.114045297G>C (hg38)
• PubMed: PMID:10212248 ; PMID:12374873 ; PMID:16844790 ; PMID:17496726

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.114045297G>C , CM000672.2:g.114045297G>C	GRCh38
NC_000010.10:g.115805056G>C , CM000672.1:g.115805056G>C	GRCh37
NC_000010.9:g.115795046G>C	NCBI36
NG_012187.1:g.6251G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369295.4:c.1165G>C MANE Select	ENSP00000358301.2:p.Gly389Arg
ENST00000369295.3:c.1165G>C	ENSP00000358301.2:p.Gly389Arg
NM_000684.2:c.1165G>C	NP_000675.1:p.Gly389Arg
NM_000684.3:c.1165G>C MANE Select	NP_000675.1:p.Gly389Arg