Canonical Allele Identifier: CA125078
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15296
ClinVar RCV Id: RCV000016529 RCV003736540
dbSNP Id: rs713040
ExAC: 11:5248243 A / T
gnomAD v2: 11-5248243-A-T
gnomAD v4: 11-5227013-A-T
MyVariant Identifiers: chr11:g.5248243A>T (hg19) chr11:g.5227013A>T (hg38)
PubMed: PMID:6852251
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227013A>T , CM000673.2:g.5227013A>T GRCh38
NC_000011.9:g.5248243A>T , CM000673.1:g.5248243A>T GRCh37
NC_000011.8:g.5204819A>T NCBI36
NG_000007.3:g.70603T>A
NG_059281.1:g.5059T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.9T>A ENSP00000494175.1:p.His3Gln
ENST00000335295.4:c.9T>A MANE Select ENSP00000333994.3:p.His3Gln
ENST00000380315.2:c.9T>A ENSP00000369671.2:p.His3Gln
ENST00000485743.1:n.60T>A
ENST00000633227.1:c.9T>A ENSP00000488004.1:p.His3Gln
NM_000518.4:c.9T>A NP_000509.1:p.His3Gln
NM_000518.5:c.9T>A MANE Select NP_000509.1:p.His3Gln
Search 100 bp 5'
Search 100 bp 3'