Canonical Allele Identifier: CA16609382
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 393707
ClinVar RCV Id: RCV000445641 RCV002265766 RCV002522737
dbSNP Id: rs34809925
gnomAD v2: 11-5246822-G-C
gnomAD v4: 11-5225592-G-C
MyVariant Identifiers: chr11:g.5246822G>C (hg19) chr11:g.5225592G>C (hg38)
PubMed: PMID:20301599
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225592G>C , CM000673.2:g.5225592G>C GRCh38
NC_000011.9:g.5246822G>C , CM000673.1:g.5246822G>C GRCh37
NC_000011.8:g.5203398G>C NCBI36
NG_000007.3:g.72024C>G
NG_059281.1:g.6480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*6C>G ENSP00000494175.1:n.*6C>G
ENST00000335295.4:c.*6C>G MANE Select ENSP00000333994.3:n.*6C>G
ENST00000633227.1:c.*266C>G ENSP00000488004.1:n.*266C>G
NM_000518.4:c.*6C>G NP_000509.1:n.*6C>G
NM_000518.5:c.*6C>G MANE Select NP_000509.1:n.*6C>G
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