Canonical Allele Identifier: CA125424
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15546
ClinVar RCV Id: RCV000016812
dbSNP Id: rs33978338
MyVariant Identifiers: chr11:g.5247985A>C (hg19) chr11:g.5226755A>C (hg38)
PubMed: PMID:8555060
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226755A>C , CM000673.2:g.5226755A>C GRCh38
NC_000011.9:g.5247985A>C , CM000673.1:g.5247985A>C GRCh37
NC_000011.8:g.5204561A>C NCBI36
NG_000007.3:g.70861T>G
NG_059281.1:g.5317T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.137T>G ENSP00000494175.1:p.Phe46Cys
ENST00000335295.4:c.137T>G MANE Select ENSP00000333994.3:p.Phe46Cys
ENST00000380315.2:c.137T>G ENSP00000369671.2:p.Phe46Cys
ENST00000475226.1:n.69T>G
ENST00000485743.1:n.188T>G
ENST00000633227.1:c.121T>G ENSP00000488004.1:p.Leu41Val
NM_000518.4:c.137T>G NP_000509.1:p.Phe46Cys
NM_000518.5:c.137T>G MANE Select NP_000509.1:p.Phe46Cys
Search 100 bp 5'
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