Canonical Allele Identifier: CA10588933
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 265987
ClinVar RCV Id: RCV000256387
dbSNP Id: rs886039874
gnomAD v4: 11-5227046-A-G
MyVariant Identifiers: chr11:g.5248276A>G (hg19) chr11:g.5227046A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227046A>G , CM000673.2:g.5227046A>G GRCh38
NC_000011.9:g.5248276A>G , CM000673.1:g.5248276A>G GRCh37
NC_000011.8:g.5204852A>G NCBI36
NG_000007.3:g.70570T>C
NG_059281.1:g.5026T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-25T>C ENSP00000494175.1:n.-25T>C
ENST00000335295.4:c.-25T>C MANE Select ENSP00000333994.3:n.-25T>C
ENST00000380315.2:c.-18-7T>C ENSP00000369671.2:n.-18-7T>C
ENST00000485743.1:n.27T>C
ENST00000633227.1:c.-25T>C ENSP00000488004.1:n.-25T>C
NM_000518.4:c.-25T>C NP_000509.1:n.-25T>C
NM_000518.5:c.-25T>C MANE Select NP_000509.1:n.-25T>C
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