Canonical Allele Identifier: CA1949566159

Gene: HBB

Linked Data

• ClinVar Variation Id: 1159671
• ClinVar RCV Id: RCV001503481
• dbSNP Id: rs1847540316

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226085T>C , CM000673.2:g.5226085T>C	GRCh38
NC_000011.9:g.5247315T>C , CM000673.1:g.5247315T>C	GRCh37
NC_000011.8:g.5203891T>C	NCBI36
NG_000007.3:g.71531A>G
NG_059281.1:g.5987A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.316-359A>G	ENSP00000494175.1:n.316-359A>G
ENST00000335295.4:c.316-359A>G MANE Select	ENSP00000333994.3:n.316-359A>G
ENST00000475226.1:n.248-359A>G
ENST00000633227.1:c.*132-359A>G	ENSP00000488004.1:n.*132-359A>G
NM_000518.4:c.316-359A>G	NP_000509.1:n.316-359A>G
NM_000518.5:c.316-359A>G MANE Select	NP_000509.1:n.316-359A>G