Canonical Allele Identifier: CA217117158

Gene: HBB

Linked Data

• ClinVar Variation Id: 695336
• ClinVar RCV Id: RCV000860863 ; RCV002507457
• dbSNP Id: rs139703273
• gnomAD v2: 11-5248524-A-G
• gnomAD v3: 11-5227294-A-G
• gnomAD v4: 11-5227294-A-G
• MyVariant Identifiers: chr11:g.5248524A>G (hg19) ; chr11:g.5227294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227294A>G , CM000673.2:g.5227294A>G	GRCh38
NC_000011.9:g.5248524A>G , CM000673.1:g.5248524A>G	GRCh37
NC_000011.8:g.5205100A>G	NCBI36
NG_000007.3:g.70322T>C
NG_059281.1:g.4778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380315.2:c.-19+218T>C	ENSP00000369671.2:n.-19+218T>C