Canonical Allele Identifier: CA217117132
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1021796402
gnomAD v3: 11-5227250-C-T
gnomAD v4: 11-5227250-C-T
MyVariant Identifiers: chr11:g.5248480C>T (hg19) chr11:g.5227250C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227250C>T , CM000673.2:g.5227250C>T GRCh38
NC_000011.9:g.5248480C>T , CM000673.1:g.5248480C>T GRCh37
NC_000011.8:g.5205056C>T NCBI36
NG_000007.3:g.70366G>A
NG_059281.1:g.4822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-211G>A ENSP00000369671.2:n.-18-211G>A
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