Canonical Allele Identifier: CA472638255
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225598-T-C
MyVariant Identifiers: chr11:g.5246828T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225598T>C , CM000673.2:g.5225598T>C GRCh38
NC_000011.9:g.5246828T>C , CM000673.1:g.5246828T>C GRCh37
NC_000011.8:g.5203404T>C NCBI36
NG_000007.3:g.72018A>G
NG_059281.1:g.6474A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.444A>G ENSP00000494175.1:p.Ter148=
ENST00000335295.4:c.444A>G MANE Select ENSP00000333994.3:p.Ter148=
ENST00000633227.1:c.*260A>G ENSP00000488004.1:n.*260A>G
NM_000518.4:c.444A>G NP_000509.1:p.Ter148=
NM_000518.5:c.444A>G MANE Select NP_000509.1:p.Ter148=
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