Canonical Allele Identifier: CA217115741
Gene: HBB HGNC NCBI
MaveDb:
Score -0.14
MyVariant.info:
GRCh38 chr11:g.5227097T>A
GRCh37 chr11:g.5248327T>A
gnomAD v2:
11:5248327 T / A
gnomAD v3:
11:5227097 T / A
gnomAD v4:
chr11-5227097-T-A
Joint Max Group AF 0.00001249 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001098 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227097T>A , CM000673.2:g.5227097T>A GRCh38
NC_000011.9:g.5248327T>A , CM000673.1:g.5248327T>A GRCh37
NC_000011.8:g.5204903T>A NCBI36
NG_000007.3:g.70519A>T
NG_059281.1:g.4975A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-76A>T ENSP00000494175.1:n.-76A>T
ENST00000380315.2:c.-18-58A>T ENSP00000369671.2:n.-18-58A>T
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