Canonical Allele Identifier: CA342847

Gene: HBB

Linked Data

• ClinVar Variation Id: 36294
• ClinVar RCV Id: RCV000029959 ; RCV000508639 ; RCV000984184 ; RCV004532418
• dbSNP Id: rs63750400
• gnomAD v2: 11-5248326-C-G
• gnomAD v3: 11-5227096-C-G
• gnomAD v4: 11-5227096-C-G
• MyVariant Identifiers: chr11:g.5248326C>G (hg19) ; chr11:g.5227096C>G (hg38)
• PubMed: PMID:17486493 ; PMID:21423179 ; PMID:25657036

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227096C>G , CM000673.2:g.5227096C>G	GRCh38
NC_000011.9:g.5248326C>G , CM000673.1:g.5248326C>G	GRCh37
NC_000011.8:g.5204902C>G	NCBI36
NG_000007.3:g.70520G>C
NG_059281.1:g.4976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-75G>C	ENSP00000494175.1:n.-75G>C
ENST00000380315.2:c.-18-57G>C	ENSP00000369671.2:n.-18-57G>C