Canonical Allele Identifier: CA677553116
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2130510
ClinVar RCV Id: RCV003044579
dbSNP Id: rs1352476647
gnomAD v3: 11-5226532-T-G
gnomAD v4: 11-5226532-T-G
MyVariant Identifiers: chr11:g.5247762T>G (hg19) chr11:g.5226532T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226532T>G , CM000673.2:g.5226532T>G GRCh38
NC_000011.9:g.5247762T>G , CM000673.1:g.5247762T>G GRCh37
NC_000011.8:g.5204338T>G NCBI36
NG_000007.3:g.71084A>C
NG_059281.1:g.5540A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+45A>C ENSP00000494175.1:n.315+45A>C
ENST00000335295.4:c.315+45A>C MANE Select ENSP00000333994.3:n.315+45A>C
ENST00000475226.1:n.247+45A>C
ENST00000485743.1:n.411A>C
ENST00000633227.1:c.*131+45A>C ENSP00000488004.1:n.*131+45A>C
NM_000518.4:c.315+45A>C NP_000509.1:n.315+45A>C
NM_000518.5:c.315+45A>C MANE Select NP_000509.1:n.315+45A>C
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