Canonical Allele Identifier: CA217117123

Gene: HBB

Linked Data

• dbSNP Id: rs117785782
• gnomAD v3: 11-5227244-A-G
• gnomAD v4: 11-5227244-A-G
• MyVariant Identifiers: chr11:g.5248474A>G (hg19) ; chr11:g.5227244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227244A>G , CM000673.2:g.5227244A>G	GRCh38
NC_000011.9:g.5248474A>G , CM000673.1:g.5248474A>G	GRCh37
NC_000011.8:g.5205050A>G	NCBI36
NG_000007.3:g.70372T>C
NG_059281.1:g.4828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380315.2:c.-18-205T>C	ENSP00000369671.2:n.-18-205T>C