Canonical Allele Identifier: CA342848

Gene: HBB

Linked Data

• ClinVar Variation Id: 36298
• ClinVar RCV Id: RCV000029963 ; RCV000759806
• dbSNP Id: rs397515291
• gnomAD v3: 11-5227113-G-C
• gnomAD v4: 11-5227113-G-C
• MyVariant Identifiers: chr11:g.5248343G>C (hg19) ; chr11:g.5227113G>C (hg38)
• PubMed: PMID:8330981 ; PMID:20406103 ; PMID:21931510 ; PMID:25976460 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227113G>C , CM000673.2:g.5227113G>C	GRCh38
NC_000011.9:g.5248343G>C , CM000673.1:g.5248343G>C	GRCh37
NC_000011.8:g.5204919G>C	NCBI36
NG_000007.3:g.70503C>G
NG_059281.1:g.4959C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-92C>G	ENSP00000494175.1:n.-92C>G
ENST00000380315.2:c.-18-74C>G	ENSP00000369671.2:n.-18-74C>G