Canonical Allele Identifier: CA472638487
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 917608
ClinVar RCV Id: RCV001174683
dbSNP Id: rs35209776
MyVariant Identifiers: chr11:g.5246921A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225691A>G , CM000673.2:g.5225691A>G GRCh38
NC_000011.9:g.5246921A>G , CM000673.1:g.5246921A>G GRCh37
NC_000011.8:g.5203497A>G NCBI36
NG_000007.3:g.71925T>C
NG_059281.1:g.6381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.351T>C ENSP00000494175.1:p.His117=
ENST00000335295.4:c.351T>C MANE Select ENSP00000333994.3:p.His117=
ENST00000475226.1:n.283T>C
ENST00000633227.1:c.*167T>C ENSP00000488004.1:n.*167T>C
NM_000518.4:c.351T>C NP_000509.1:p.His117=
NM_000518.5:c.351T>C MANE Select NP_000509.1:p.His117=
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