Canonical Allele Identifier: CA1949567110
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1930030
ClinVar RCV Id: RCV002626611
dbSNP Id: rs1589892198
gnomAD v4: 11-5226530-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226530C>T , CM000673.2:g.5226530C>T GRCh38
NC_000011.9:g.5247760C>T , CM000673.1:g.5247760C>T GRCh37
NC_000011.8:g.5204336C>T NCBI36
NG_000007.3:g.71086G>A
NG_059281.1:g.5542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+47G>A ENSP00000494175.1:n.315+47G>A
ENST00000335295.4:c.315+47G>A MANE Select ENSP00000333994.3:n.315+47G>A
ENST00000475226.1:n.247+47G>A
ENST00000485743.1:n.413G>A
ENST00000633227.1:c.*131+47G>A ENSP00000488004.1:n.*131+47G>A
NM_000518.4:c.315+47G>A NP_000509.1:n.315+47G>A
NM_000518.5:c.315+47G>A MANE Select NP_000509.1:n.315+47G>A
Search 100 bp 5'
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