Canonical Allele Identifier: CA342847
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5227096C>G
GRCh37 chr11:g.5248326C>G
gnomAD v2:
11:5248326 C / G
gnomAD v3:
11:5227096 C / G
gnomAD v4:
chr11-5227096-C-G
Joint Max Group AF 0.00009658 (AFR)
Genomes Max Group AF 0.00006284 (AFR)
Exomes Max Group AF 0.00008886 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227096C>G , CM000673.2:g.5227096C>G GRCh38
NC_000011.9:g.5248326C>G , CM000673.1:g.5248326C>G GRCh37
NC_000011.8:g.5204902C>G NCBI36
NG_000007.3:g.70520G>C
NG_059281.1:g.4976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-75G>C ENSP00000494175.1:n.-75G>C
ENST00000380315.2:c.-18-57G>C ENSP00000369671.2:n.-18-57G>C
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