Canonical Allele Identifier: CA125328

Gene: HBB

Linked Data

• ClinVar Variation Id: 15470
• ClinVar RCV Id: RCV000016728 ; RCV000508592 ; RCV000589656 ; RCV001004363 ; RCV002482876
• dbSNP Id: rs33931746
• gnomAD v4: 11-5227099-T-G
• MyVariant Identifiers: chr11:g.5248329T>G (hg19) ; chr11:g.5227099T>G (hg38)
• PubMed: PMID:2200760 ; PMID:7076659 ; PMID:8619407 ; PMID:14734204 ; PMID:18976160 ; PMID:28385923

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227099T>G , CM000673.2:g.5227099T>G	GRCh38
NC_000011.9:g.5248329T>G , CM000673.1:g.5248329T>G	GRCh37
NC_000011.8:g.5204905T>G	NCBI36
NG_000007.3:g.70517A>C
NG_059281.1:g.4973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-78A>C	ENSP00000494175.1:n.-78A>C
ENST00000380315.2:c.-18-60A>C	ENSP00000369671.2:n.-18-60A>C