Canonical Allele Identifier: CA1949565948

Gene: HBB

Linked Data

• ClinVar Variation Id: 2131064
• ClinVar RCV Id: RCV003048020
• dbSNP Id: rs1847537665

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225942C>G , CM000673.2:g.5225942C>G	GRCh38
NC_000011.9:g.5247172C>G , CM000673.1:g.5247172C>G	GRCh37
NC_000011.8:g.5203748C>G	NCBI36
NG_000007.3:g.71674G>C
NG_059281.1:g.6130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-216G>C	ENSP00000494175.1:n.316-216G>C
ENST00000335295.4:c.316-216G>C MANE Select	ENSP00000333994.3:n.316-216G>C
ENST00000475226.1:n.248-216G>C
ENST00000633227.1:c.*132-216G>C	ENSP00000488004.1:n.*132-216G>C
NM_000518.4:c.316-216G>C	NP_000509.1:n.316-216G>C
NM_000518.5:c.316-216G>C MANE Select	NP_000509.1:n.316-216G>C