Canonical Allele Identifier: CA342875

Gene: HBB

Linked Data

• ClinVar Variation Id: 36331
• ClinVar RCV Id: RCV000029999 ; RCV000755281 ; RCV004541025
• dbSNP Id: rs34029390
• gnomAD v2: 11-5246732-A-G
• gnomAD v3: 11-5225502-A-G
• gnomAD v4: 11-5225502-A-G
• MyVariant Identifiers: chr11:g.5246732A>G (hg19) ; chr11:g.5225502A>G (hg38)
• PubMed: PMID:1536956 ; PMID:8270260 ; PMID:18096416 ; PMID:18603555 ; PMID:22734587 ; PMID:24744638 ; PMID:25572186 ; PMID:26418075 ; PMID:27351925

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225502A>G , CM000673.2:g.5225502A>G	GRCh38
NC_000011.9:g.5246732A>G , CM000673.1:g.5246732A>G	GRCh37
NC_000011.8:g.5203308A>G	NCBI36
NG_000007.3:g.72114T>C
NG_059281.1:g.6570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*96T>C	ENSP00000494175.1:n.*96T>C
ENST00000335295.4:c.*96T>C MANE Select	ENSP00000333994.3:n.*96T>C
ENST00000633227.1:c.*356T>C	ENSP00000488004.1:n.*356T>C
NM_000518.4:c.*96T>C	NP_000509.1:n.*96T>C
NM_000518.5:c.*96T>C MANE Select	NP_000509.1:n.*96T>C