Canonical Allele Identifier: CA5839732
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 763094
ClinVar RCV Id: RCV000941302
dbSNP Id: rs756567448
ExAC: 11:5247792 G / A
gnomAD v2: 11-5247792-G-A
gnomAD v4: 11-5226562-G-A
MyVariant Identifiers: chr11:g.5247792G>A (hg19) chr11:g.5226562G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226562G>A , CM000673.2:g.5226562G>A GRCh38
NC_000011.9:g.5247792G>A , CM000673.1:g.5247792G>A GRCh37
NC_000011.8:g.5204368G>A NCBI36
NG_000007.3:g.71054C>T
NG_059281.1:g.5510C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+15C>T ENSP00000494175.1:n.315+15C>T
ENST00000335295.4:c.315+15C>T MANE Select ENSP00000333994.3:n.315+15C>T
ENST00000475226.1:n.247+15C>T
ENST00000485743.1:n.381C>T
ENST00000633227.1:c.*131+15C>T ENSP00000488004.1:n.*131+15C>T
NM_000518.4:c.315+15C>T NP_000509.1:n.315+15C>T
NM_000518.5:c.315+15C>T MANE Select NP_000509.1:n.315+15C>T
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