Canonical Allele Identifier: CA5839804
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1131624
ClinVar RCV Id: RCV001465564
dbSNP Id: rs372716225
gnomAD v2: 11-5248121-T-C
gnomAD v3: 11-5226891-T-C
gnomAD v4: 11-5226891-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226891T>C , CM000673.2:g.5226891T>C GRCh38
NC_000011.9:g.5248121T>C , CM000673.1:g.5248121T>C GRCh37
NC_000011.8:g.5204697T>C NCBI36
NG_000007.3:g.70725A>G
NG_059281.1:g.5181A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+39A>G ENSP00000494175.1:n.92+39A>G
ENST00000335295.4:c.92+39A>G MANE Select ENSP00000333994.3:n.92+39A>G
ENST00000380315.2:c.92+39A>G ENSP00000369671.2:n.92+39A>G
ENST00000485743.1:n.143+39A>G
ENST00000633227.1:c.76+55A>G ENSP00000488004.1:n.76+55A>G
NM_000518.4:c.92+39A>G NP_000509.1:n.92+39A>G
NM_000518.5:c.92+39A>G MANE Select NP_000509.1:n.92+39A>G