Canonical Allele Identifier: CA677552791
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 796407
ClinVar RCV Id: RCV000979794
dbSNP Id: rs1200755137
MyVariant Identifiers: chr11:g.5247297A>G (hg19) chr11:g.5226067A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226067A>G , CM000673.2:g.5226067A>G GRCh38
NC_000011.9:g.5247297A>G , CM000673.1:g.5247297A>G GRCh37
NC_000011.8:g.5203873A>G NCBI36
NG_000007.3:g.71549T>C
NG_059281.1:g.6005T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-341T>C ENSP00000494175.1:n.316-341T>C
ENST00000335295.4:c.316-341T>C MANE Select ENSP00000333994.3:n.316-341T>C
ENST00000475226.1:n.248-341T>C
ENST00000633227.1:c.*132-341T>C ENSP00000488004.1:n.*132-341T>C
NM_000518.4:c.316-341T>C NP_000509.1:n.316-341T>C
NM_000518.5:c.316-341T>C MANE Select NP_000509.1:n.316-341T>C
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