Canonical Allele Identifier: CA125316
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15457
dbSNP Id: rs34690599

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225832G>C , CM000673.2:g.5225832G>C GRCh38
NC_000011.9:g.5247062G>C , CM000673.1:g.5247062G>C GRCh37
NC_000011.8:g.5203638G>C NCBI36
NG_000007.3:g.71784C>G
NG_059281.1:g.6240C>G

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.316-106C>G VV NP_000509.1:p.=
NM_000518.5:c.316-106C>G VV MANE Preferred
ENST00000335295.4:c.316-106C>G ENSP00000333994.3:p.=
ENST00000475226.1:n.248-106C>G
ENST00000633227.1:c.*132-106C>G ENSP00000488004.1:p.=