Canonical Allele Identifier: CA597436146
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1007800439
gnomAD v2: 11-5248426-C-T
gnomAD v3: 11-5227196-C-T
gnomAD v4: 11-5227196-C-T
MyVariant Identifiers: chr11:g.5248426C>T (hg19) chr11:g.5227196C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227196C>T , CM000673.2:g.5227196C>T GRCh38
NC_000011.9:g.5248426C>T , CM000673.1:g.5248426C>T GRCh37
NC_000011.8:g.5205002C>T NCBI36
NG_000007.3:g.70420G>A
NG_059281.1:g.4876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-175G>A ENSP00000494175.1:n.-175G>A
ENST00000380315.2:c.-18-157G>A ENSP00000369671.2:n.-18-157G>A
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