Canonical Allele Identifier: CA5839755
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439138
dbSNP Id: rs35278874
gnomAD v2: 11-5247948-G-A
gnomAD v3: 11-5226718-G-A
gnomAD v4: 11-5226718-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226718G>A , CM000673.2:g.5226718G>A GRCh38
NC_000011.9:g.5247948G>A , CM000673.1:g.5247948G>A GRCh37
NC_000011.8:g.5204524G>A NCBI36
NG_000007.3:g.70898C>T
NG_059281.1:g.5354C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.174C>T ENSP00000494175.1:p.Asn58=
ENST00000335295.4:c.174C>T MANE Select ENSP00000333994.3:p.Asn58=
ENST00000380315.2:c.174C>T ENSP00000369671.2:p.Asn58=
ENST00000475226.1:n.106C>T
ENST00000485743.1:n.225C>T
ENST00000633227.1:c.158C>T ENSP00000488004.1:p.Thr53Ile
NM_000518.4:c.174C>T NP_000509.1:p.Asn58=
NM_000518.5:c.174C>T MANE Select NP_000509.1:p.Asn58=