Canonical Allele Identifier: CA2573147094
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1632385
ClinVar RCV Id: RCV002118978
dbSNP Id: rs2133586468
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225766A>C , CM000673.2:g.5225766A>C GRCh38
NC_000011.9:g.5246996A>C , CM000673.1:g.5246996A>C GRCh37
NC_000011.8:g.5203572A>C NCBI36
NG_000007.3:g.71850T>G
NG_059281.1:g.6306T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-40T>G ENSP00000494175.1:n.316-40T>G
ENST00000335295.4:c.316-40T>G MANE Select ENSP00000333994.3:n.316-40T>G
ENST00000475226.1:n.248-40T>G
ENST00000633227.1:c.*132-40T>G ENSP00000488004.1:n.*132-40T>G
NM_000518.4:c.316-40T>G NP_000509.1:n.316-40T>G
NM_000518.5:c.316-40T>G MANE Select NP_000509.1:n.316-40T>G
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