Canonical Allele Identifier: CA2557623826
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227206-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227206C>A , CM000673.2:g.5227206C>A GRCh38
NC_000011.9:g.5248436C>A , CM000673.1:g.5248436C>A GRCh37
NC_000011.8:g.5205012C>A NCBI36
NG_000007.3:g.70410G>T
NG_059281.1:g.4866G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-167G>T ENSP00000369671.2:n.-18-167G>T