Canonical Allele Identifier: CA2697548378

Gene: HBB

Linked Data

• ClinVar Variation Id: 2742787
• ClinVar RCV Id: RCV003558111

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225939T>G , CM000673.2:g.5225939T>G	GRCh38
NC_000011.9:g.5247169T>G , CM000673.1:g.5247169T>G	GRCh37
NC_000011.8:g.5203745T>G	NCBI36
NG_000007.3:g.71677A>C
NG_059281.1:g.6133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-213A>C	ENSP00000494175.1:n.316-213A>C
ENST00000335295.4:c.316-213A>C MANE Select	ENSP00000333994.3:n.316-213A>C
ENST00000475226.1:n.248-213A>C
ENST00000633227.1:c.*132-213A>C	ENSP00000488004.1:n.*132-213A>C
NM_000518.4:c.316-213A>C	NP_000509.1:n.316-213A>C
NM_000518.5:c.316-213A>C MANE Select	NP_000509.1:n.316-213A>C