Canonical Allele Identifier: CA217115811

Gene: HBB

Linked Data

• ClinVar Variation Id: 495972
• ClinVar RCV Id: RCV000590577 ; RCV001272131 ; RCV002483568 ; RCV001526852
• dbSNP Id: rs281864524
• gnomAD v2: 11-5248351-C-T
• gnomAD v3: 11-5227121-C-T
• gnomAD v4: 11-5227121-C-T
• MyVariant Identifiers: chr11:g.5248351C>T (hg19) ; chr11:g.5227121C>T (hg38)
• PubMed: PMID:19290524 ; PMID:24055728 ; PMID:25471338 ; PMID:25526804

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227121C>T , CM000673.2:g.5227121C>T	GRCh38
NC_000011.9:g.5248351C>T , CM000673.1:g.5248351C>T	GRCh37
NC_000011.8:g.5204927C>T	NCBI36
NG_000007.3:g.70495G>A
NG_059281.1:g.4951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-100G>A	ENSP00000494175.1:n.-100G>A
ENST00000380315.2:c.-18-82G>A	ENSP00000369671.2:n.-18-82G>A