Canonical Allele Identifier: CA125267
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15406
ClinVar RCV Id: RCV000016660 RCV000506797 RCV000665678 RCV000780310 RCV001004568
dbSNP Id: rs33922842
gnomAD v2: 11-5247992-C-A
MyVariant Identifiers: chr11:g.5247992C>A (hg19) chr11:g.5247992_5247996delinsAAAAG (hg19) chr11:g.5226762C>A (hg38)
PubMed: PMID:3403716 PMID:25000193
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226762C>A , CM000673.2:g.5226762C>A GRCh38
NC_000011.9:g.5247992C>A , CM000673.1:g.5247992C>A GRCh37
NC_000011.8:g.5204568C>A NCBI36
NG_000007.3:g.70854G>T
NG_059281.1:g.5310G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.130G>T ENSP00000494175.1:p.Glu44Ter
ENST00000335295.4:c.130G>T MANE Select ENSP00000333994.3:p.Glu44Ter
ENST00000380315.2:c.130G>T ENSP00000369671.2:p.Glu44Ter
ENST00000475226.1:n.62G>T
ENST00000485743.1:n.181G>T
ENST00000633227.1:c.114G>T ENSP00000488004.1:p.Leu38Phe
NM_000518.4:c.130G>T NP_000509.1:p.Glu44Ter
NM_000518.5:c.130G>T MANE Select NP_000509.1:p.Glu44Ter
Search 100 bp 5'
Search 100 bp 3'