Canonical Allele Identifier: CA677538286
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869326
ClinVar RCV Id: RCV001078393 RCV003478697 RCV001824922
dbSNP Id: rs1272414751
gnomAD v3: 11-5227143-A-T
gnomAD v4: 11-5227143-A-T
MyVariant Identifiers: chr11:g.5248373A>T (hg19) chr11:g.5227143A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227143A>T , CM000673.2:g.5227143A>T GRCh38
NC_000011.9:g.5248373A>T , CM000673.1:g.5248373A>T GRCh37
NC_000011.8:g.5204949A>T NCBI36
NG_000007.3:g.70473T>A
NG_059281.1:g.4929T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-122T>A ENSP00000494175.1:n.-122T>A
ENST00000380315.2:c.-18-104T>A ENSP00000369671.2:n.-18-104T>A
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