Canonical Allele Identifier: CA127367

Gene: ADRB1

Linked Data

• ClinVar Variation Id: 17747
• ClinVar RCV Id: RCV000019323 ; RCV000600843
• dbSNP Id: rs1801252
• ExAC: 10:115804036 A / G
• gnomAD v2: 10-115804036-A-G
• gnomAD v3: 10-114044277-A-G
• gnomAD v4: 10-114044277-A-G
• MyVariant Identifiers: chr10:g.115804036A>G (hg19) ; chr10:g.114044277A>G (hg38)
• PubMed: PMID:11854867

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.114044277A>G , CM000672.2:g.114044277A>G	GRCh38
NC_000010.10:g.115804036A>G , CM000672.1:g.115804036A>G	GRCh37
NC_000010.9:g.115794026A>G	NCBI36
NG_012187.1:g.5231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369295.4:c.145A>G MANE Select	ENSP00000358301.2:p.Ser49Gly
ENST00000369295.3:c.145A>G	ENSP00000358301.2:p.Ser49Gly
NM_000684.2:c.145A>G	NP_000675.1:p.Ser49Gly
NM_000684.3:c.145A>G MANE Select	NP_000675.1:p.Ser49Gly