Canonical Allele Identifier: CA2573053524

Gene: HBB

Linked Data

• ClinVar Variation Id: 1330054
• ClinVar RCV Id: RCV001801071
• dbSNP Id: rs2133589763
• gnomAD v4: 11-5227090-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227090C>T , CM000673.2:g.5227090C>T	GRCh38
NC_000011.9:g.5248320C>T , CM000673.1:g.5248320C>T	GRCh37
NC_000011.8:g.5204896C>T	NCBI36
NG_000007.3:g.70526G>A
NG_059281.1:g.4982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-69G>A	ENSP00000494175.1:n.-69G>A
ENST00000380315.2:c.-18-51G>A	ENSP00000369671.2:n.-18-51G>A