Canonical Allele Identifier: CA342856
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36311
ClinVar RCV Id: RCV000589853 RCV001272124 RCV003387731
dbSNP Id: rs34227486
gnomAD v3: 11-5226583-G-T
gnomAD v4: 11-5226583-G-T
MyVariant Identifiers: chr11:g.5247813G>T (hg19) chr11:g.5226583G>T (hg38)
PubMed: PMID:239952 PMID:1272328 PMID:4981790 PMID:5283757 PMID:6859036 PMID:19429541 PMID:19750260 PMID:24200101 PMID:26635043
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226583G>T , CM000673.2:g.5226583G>T GRCh38
NC_000011.9:g.5247813G>T , CM000673.1:g.5247813G>T GRCh37
NC_000011.8:g.5204389G>T NCBI36
NG_000007.3:g.71033C>A
NG_059281.1:g.5489C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.309C>A ENSP00000494175.1:p.Asn103Lys
ENST00000335295.4:c.309C>A MANE Select ENSP00000333994.3:p.Asn103Lys
ENST00000475226.1:n.241C>A
ENST00000485743.1:n.360C>A
ENST00000633227.1:c.*125C>A ENSP00000488004.1:n.*125C>A
NM_000518.4:c.309C>A NP_000509.1:p.Asn103Lys
NM_000518.5:c.309C>A MANE Select NP_000509.1:p.Asn103Lys
Search 100 bp 5'
Search 100 bp 3'