Canonical Allele Identifier: CA125325

Gene: HBB

Linked Data

• ClinVar Variation Id: 15466
• ClinVar RCV Id: RCV000016724 ; RCV000445643 ; RCV000506722 ; RCV001255596
• dbSNP Id: rs33981098
• gnomAD v4: 11-5227102-T-C
• MyVariant Identifiers: chr11:g.5248332T>C (hg19) ; chr11:g.5227102T>C (hg38)
• PubMed: PMID:2634674 ; PMID:3002527 ; PMID:20301599 ; PMID:26029792

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227102T>C , CM000673.2:g.5227102T>C	GRCh38
NC_000011.9:g.5248332T>C , CM000673.1:g.5248332T>C	GRCh37
NC_000011.8:g.5204908T>C	NCBI36
NG_000007.3:g.70514A>G
NG_059281.1:g.4970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-81A>G	ENSP00000494175.1:n.-81A>G
ENST00000380315.2:c.-18-63A>G	ENSP00000369671.2:n.-18-63A>G