Canonical Allele Identifier: CA2573147147

Gene: HBB

Linked Data

• ClinVar Variation Id: 1626697
• ClinVar RCV Id: RCV002132737
• dbSNP Id: rs2133587466
• gnomAD v4: 11-5226429-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226429T>C , CM000673.2:g.5226429T>C	GRCh38
NC_000011.9:g.5247659T>C , CM000673.1:g.5247659T>C	GRCh37
NC_000011.8:g.5204235T>C	NCBI36
NG_000007.3:g.71187A>G
NG_059281.1:g.5643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+148A>G	ENSP00000494175.1:n.315+148A>G
ENST00000335295.4:c.315+148A>G MANE Select	ENSP00000333994.3:n.315+148A>G
ENST00000475226.1:n.247+148A>G
ENST00000485743.1:n.514A>G
ENST00000633227.1:c.*131+148A>G	ENSP00000488004.1:n.*131+148A>G
NM_000518.4:c.315+148A>G	NP_000509.1:n.315+148A>G
NM_000518.5:c.315+148A>G MANE Select	NP_000509.1:n.315+148A>G