Canonical Allele Identifier: CA125329

Gene: HBB

Linked Data

• ClinVar Variation Id: 15471
• ClinVar RCV Id: RCV000016729 ; RCV000029960 ; RCV000506257 ; RCV001004362
• dbSNP Id: rs33931746
• gnomAD v2: 11-5248329-T-C
• gnomAD v3: 11-5227099-T-C
• gnomAD v4: 11-5227099-T-C
• MyVariant Identifiers: chr11:g.5248329T>C (hg19) ; chr11:g.5227099T>C (hg38)
• PubMed: PMID:6308558 ; PMID:7076659 ; PMID:8330981 ; PMID:8435318 ; PMID:9160698 ; PMID:20301599 ; PMID:28385923

Genomic Alleles

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

Transcript Alleles

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