Canonical Allele Identifier: CA125327

Gene: HBB

Linked Data

• ClinVar Variation Id: 15469
• ClinVar RCV Id: RCV000016727 ; RCV000020326 ; RCV000810653
• dbSNP Id: rs34598529
• gnomAD v2: 11-5248330-T-C
• gnomAD v3: 11-5227100-T-C
• gnomAD v4: 11-5227100-T-C
• MyVariant Identifiers: chr11:g.5248330T>C (hg19) ; chr11:g.5227100T>C (hg38)
• PubMed: PMID:2014803 ; PMID:2123063 ; PMID:2458145 ; PMID:2665856 ; PMID:2875755 ; PMID:3021607 ; PMID:3457470 ; PMID:6583683 ; PMID:6583702 ; PMID:8330981 ; PMID:8435318 ; PMID:19372376 ; PMID:20301599 ; PMID:26079343

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227100T>C , CM000673.2:g.5227100T>C	GRCh38
NC_000011.9:g.5248330T>C , CM000673.1:g.5248330T>C	GRCh37
NC_000011.8:g.5204906T>C	NCBI36
NG_000007.3:g.70516A>G
NG_059281.1:g.4972A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-79A>G	ENSP00000494175.1:n.-79A>G
ENST00000380315.2:c.-18-61A>G	ENSP00000369671.2:n.-18-61A>G