Canonical Allele Identifier: CA5839716
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs756657263
ExAC: 11:5246976 G / C
gnomAD v2: 11-5246976-G-C
gnomAD v4: 11-5225746-G-C
MyVariant Identifiers: chr11:g.5246976G>C (hg19) chr11:g.5225746G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225746G>C , CM000673.2:g.5225746G>C GRCh38
NC_000011.9:g.5246976G>C , CM000673.1:g.5246976G>C GRCh37
NC_000011.8:g.5203552G>C NCBI36
NG_000007.3:g.71870C>G
NG_059281.1:g.6326C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-20C>G ENSP00000494175.1:n.316-20C>G
ENST00000335295.4:c.316-20C>G MANE Select ENSP00000333994.3:n.316-20C>G
ENST00000475226.1:n.248-20C>G
ENST00000633227.1:c.*132-20C>G ENSP00000488004.1:n.*132-20C>G
NM_000518.4:c.316-20C>G NP_000509.1:n.316-20C>G
NM_000518.5:c.316-20C>G MANE Select NP_000509.1:n.316-20C>G
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