Canonical Allele Identifier: CA125058
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15286
dbSNP Id: rs34484056
gnomAD v2: 11-5246931-A-T
gnomAD v3: 11-5225701-A-T
gnomAD v4: 11-5225701-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225701A>T , CM000673.2:g.5225701A>T GRCh38
NC_000011.9:g.5246931A>T , CM000673.1:g.5246931A>T GRCh37
NC_000011.8:g.5203507A>T NCBI36
NG_000007.3:g.71915T>A
NG_059281.1:g.6371T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.341T>A ENSP00000494175.1:p.Val114Glu
ENST00000335295.4:c.341T>A MANE Select ENSP00000333994.3:p.Val114Glu
ENST00000475226.1:n.273T>A
ENST00000633227.1:c.*157T>A ENSP00000488004.1:n.*157T>A
NM_000518.4:c.341T>A NP_000509.1:p.Val114Glu
NM_000518.5:c.341T>A MANE Select NP_000509.1:p.Val114Glu