Canonical Allele Identifier: CA1949571868
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1589893859
gnomAD v4: 11-5227185-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227185G>A , CM000673.2:g.5227185G>A GRCh38
NC_000011.9:g.5248415G>A , CM000673.1:g.5248415G>A GRCh37
NC_000011.8:g.5204991G>A NCBI36
NG_000007.3:g.70431C>T
NG_059281.1:g.4887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-164C>T ENSP00000494175.1:n.-164C>T
ENST00000380315.2:c.-18-146C>T ENSP00000369671.2:n.-18-146C>T
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