Canonical Allele Identifier: CA217112899

Gene: HBB

Linked Data

• ClinVar Variation Id: 15453
• ClinVar RCV Id: RCV000016711 ; RCV001078323 ; RCV003556030
• dbSNP Id: rs34793594
• MyVariant Identifiers: chr11:g.5246964A>C (hg19) ; chr11:g.5225734A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225734A>C , CM000673.2:g.5225734A>C	GRCh38
NC_000011.9:g.5246964A>C , CM000673.1:g.5246964A>C	GRCh37
NC_000011.8:g.5203540A>C	NCBI36
NG_000007.3:g.71882T>G
NG_059281.1:g.6338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-8T>G	ENSP00000494175.1:n.316-8T>G
ENST00000335295.4:c.316-8T>G MANE Select	ENSP00000333994.3:n.316-8T>G
ENST00000475226.1:n.248-8T>G
ENST00000633227.1:c.*132-8T>G	ENSP00000488004.1:n.*132-8T>G
NM_000518.4:c.316-8T>G	NP_000509.1:n.316-8T>G
NM_000518.5:c.316-8T>G MANE Select	NP_000509.1:n.316-8T>G