Canonical Allele Identifier: CA342868
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36324
ClinVar RCV Id: RCV000586298 RCV002222359
dbSNP Id: rs33935673
gnomAD v3: 11-5225689-T-C
gnomAD v4: 11-5225689-T-C
MyVariant Identifiers: chr11:g.5246919T>C (hg19) chr11:g.5225689T>C (hg38)
PubMed: PMID:700140 PMID:1164567 PMID:6859036 PMID:8330975 PMID:10870891 PMID:11694258 PMID:12386379 PMID:14109943 PMID:20395516
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225689T>C , CM000673.2:g.5225689T>C GRCh38
NC_000011.9:g.5246919T>C , CM000673.1:g.5246919T>C GRCh37
NC_000011.8:g.5203495T>C NCBI36
NG_000007.3:g.71927A>G
NG_059281.1:g.6383A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.353A>G ENSP00000494175.1:p.His118Arg
ENST00000335295.4:c.353A>G MANE Select ENSP00000333994.3:p.His118Arg
ENST00000475226.1:n.285A>G
ENST00000633227.1:c.*169A>G ENSP00000488004.1:n.*169A>G
NM_000518.4:c.353A>G NP_000509.1:p.His118Arg
NM_000518.5:c.353A>G MANE Select NP_000509.1:p.His118Arg
Search 100 bp 5'
Search 100 bp 3'