Canonical Allele Identifier: CA217115390
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38646
dbSNP Id: rs34716011

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226974C>T , CM000673.2:g.5226974C>T GRCh38
NC_000011.9:g.5248204C>T , CM000673.1:g.5248204C>T GRCh37
NC_000011.8:g.5204780C>T NCBI36
NG_000007.3:g.70642G>A
NG_059281.1:g.5098G>A

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.48G>A VV NP_000509.1:p.Trp16Ter
NM_000518.5:c.48G>A VV MANE Preferred
ENST00000335295.4:c.48G>A ENSP00000333994.3:p.Trp16Ter
ENST00000380315.2:c.48G>A ENSP00000369671.2:p.Trp16Ter
ENST00000485743.1:n.99G>A
ENST00000633227.1:c.48G>A ENSP00000488004.1:p.Trp16Ter