Canonical Allele Identifier: CA2499221046

Gene: HBB

Linked Data

• ClinVar Variation Id: 1099709
• ClinVar RCV Id: RCV001422101
• dbSNP Id: rs2133587368
• gnomAD v4: 11-5226365-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226365A>C , CM000673.2:g.5226365A>C	GRCh38
NC_000011.9:g.5247595A>C , CM000673.1:g.5247595A>C	GRCh37
NC_000011.8:g.5204171A>C	NCBI36
NG_000007.3:g.71251T>G
NG_059281.1:g.5707T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+212T>G	ENSP00000494175.1:n.315+212T>G
ENST00000335295.4:c.315+212T>G MANE Select	ENSP00000333994.3:n.315+212T>G
ENST00000475226.1:n.247+212T>G
ENST00000485743.1:n.578T>G
ENST00000633227.1:c.*131+212T>G	ENSP00000488004.1:n.*131+212T>G
NM_000518.4:c.315+212T>G	NP_000509.1:n.315+212T>G
NM_000518.5:c.315+212T>G MANE Select	NP_000509.1:n.315+212T>G