Canonical Allele Identifier: CA342840

Gene: HBB

Linked Data

• ClinVar Variation Id: 36281
• ClinVar RCV Id: RCV000029946 ; RCV000759788 ; RCV001004364 ; RCV001175347 ; RCV002290956
• dbSNP Id: rs63750681
• gnomAD v2: 11-5248357-C-G
• gnomAD v3: 11-5227127-C-G
• gnomAD v4: 11-5227127-C-G
• MyVariant Identifiers: chr11:g.5248357C>G (hg19) ; chr11:g.5227127C>G (hg38)
• PubMed: PMID:18081706 ; PMID:26076395

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227127C>G , CM000673.2:g.5227127C>G	GRCh38
NC_000011.9:g.5248357C>G , CM000673.1:g.5248357C>G	GRCh37
NC_000011.8:g.5204933C>G	NCBI36
NG_000007.3:g.70489G>C
NG_059281.1:g.4945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-106G>C	ENSP00000494175.1:n.-106G>C
ENST00000380315.2:c.-18-88G>C	ENSP00000369671.2:n.-18-88G>C