Canonical Allele Identifier: CA472885719
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1568873
ClinVar RCV Id: RCV002218670 RCV002271718
dbSNP Id: rs35198910
gnomAD v3: 11-5226995-C-T
gnomAD v4: 11-5226995-C-T
MyVariant Identifiers: chr11:g.5248225C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226995C>T , CM000673.2:g.5226995C>T GRCh38
NC_000011.9:g.5248225C>T , CM000673.1:g.5248225C>T GRCh37
NC_000011.8:g.5204801C>T NCBI36
NG_000007.3:g.70621G>A
NG_059281.1:g.5077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.27G>A ENSP00000494175.1:p.Lys9=
ENST00000335295.4:c.27G>A MANE Select ENSP00000333994.3:p.Lys9=
ENST00000380315.2:c.27G>A ENSP00000369671.2:p.Lys9=
ENST00000485743.1:n.78G>A
ENST00000633227.1:c.27G>A ENSP00000488004.1:p.Lys9=
NM_000518.4:c.27G>A NP_000509.1:p.Lys9=
NM_000518.5:c.27G>A MANE Select NP_000509.1:p.Lys9=
Search 100 bp 5'
Search 100 bp 3'