Canonical Allele Identifier: CA217115902
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1021437911
gnomAD v4: 11-5227231-G-C
MyVariant Identifiers: chr11:g.5248461G>C (hg19) chr11:g.5227231G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227231G>C , CM000673.2:g.5227231G>C GRCh38
NC_000011.9:g.5248461G>C , CM000673.1:g.5248461G>C GRCh37
NC_000011.8:g.5205037G>C NCBI36
NG_000007.3:g.70385C>G
NG_059281.1:g.4841C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-192C>G ENSP00000369671.2:n.-18-192C>G
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