Canonical Allele Identifier: CA125326

Gene: HBB

Linked Data

• ClinVar Variation Id: 15467
• ClinVar RCV Id: RCV000016725 ; RCV000029962 ; RCV000508486 ; RCV001000147
• dbSNP Id: rs33980857
• gnomAD v4: 11-5227101-A-T
• MyVariant Identifiers: chr11:g.5248331A>T (hg19) ; chr11:g.5227101A>T (hg38)
• PubMed: PMID:1487424 ; PMID:1917531 ; PMID:3382401 ; PMID:20301599 ; PMID:20854126

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227101A>T , CM000673.2:g.5227101A>T	GRCh38
NC_000011.9:g.5248331A>T , CM000673.1:g.5248331A>T	GRCh37
NC_000011.8:g.5204907A>T	NCBI36
NG_000007.3:g.70515T>A
NG_059281.1:g.4971T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-80T>A	ENSP00000494175.1:n.-80T>A
ENST00000380315.2:c.-18-62T>A	ENSP00000369671.2:n.-18-62T>A