Canonical Allele Identifier: CA1949569876

Gene: HBB

Linked Data

• ClinVar Variation Id: 2791980
• ClinVar RCV Id: RCV003674803
• dbSNP Id: rs1847575815

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226840T>C , CM000673.2:g.5226840T>C	GRCh38
NC_000011.9:g.5248070T>C , CM000673.1:g.5248070T>C	GRCh37
NC_000011.8:g.5204646T>C	NCBI36
NG_000007.3:g.70776A>G
NG_059281.1:g.5232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-41A>G	ENSP00000494175.1:n.93-41A>G
ENST00000335295.4:c.93-41A>G MANE Select	ENSP00000333994.3:n.93-41A>G
ENST00000380315.2:c.93-41A>G	ENSP00000369671.2:n.93-41A>G
ENST00000485743.1:n.144-41A>G
ENST00000633227.1:c.77-41A>G	ENSP00000488004.1:n.77-41A>G
NM_000518.4:c.93-41A>G	NP_000509.1:n.93-41A>G
NM_000518.5:c.93-41A>G MANE Select	NP_000509.1:n.93-41A>G