Canonical Allele Identifier: CA2499220998

Gene: HBB

Linked Data

• ClinVar Variation Id: 1101246
• ClinVar RCV Id: RCV001424099
• dbSNP Id: rs2133586425
• gnomAD v4: 11-5225741-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225741T>C , CM000673.2:g.5225741T>C	GRCh38
NC_000011.9:g.5246971T>C , CM000673.1:g.5246971T>C	GRCh37
NC_000011.8:g.5203547T>C	NCBI36
NG_000007.3:g.71875A>G
NG_059281.1:g.6331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-15A>G	ENSP00000494175.1:n.316-15A>G
ENST00000335295.4:c.316-15A>G MANE Select	ENSP00000333994.3:n.316-15A>G
ENST00000475226.1:n.248-15A>G
ENST00000633227.1:c.*132-15A>G	ENSP00000488004.1:n.*132-15A>G
NM_000518.4:c.316-15A>G	NP_000509.1:n.316-15A>G
NM_000518.5:c.316-15A>G MANE Select	NP_000509.1:n.316-15A>G