Canonical Allele Identifier: CA217115731

Gene: HBB

Linked Data

• ClinVar Variation Id: 3051702
• ClinVar RCV Id: RCV004545571
• dbSNP Id: rs954327894
• gnomAD v2: 11-5248321-C-T
• gnomAD v3: 11-5227091-C-T
• gnomAD v4: 11-5227091-C-T
• MyVariant Identifiers: chr11:g.5248321C>T (hg19) ; chr11:g.5227091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227091C>T , CM000673.2:g.5227091C>T	GRCh38
NC_000011.9:g.5248321C>T , CM000673.1:g.5248321C>T	GRCh37
NC_000011.8:g.5204897C>T	NCBI36
NG_000007.3:g.70525G>A
NG_059281.1:g.4981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-70G>A	ENSP00000494175.1:n.-70G>A
ENST00000380315.2:c.-18-52G>A	ENSP00000369671.2:n.-18-52G>A