Canonical Allele Identifier: CA2697548396

Gene: HBB

Linked Data

• ClinVar Variation Id: 2751019
• ClinVar RCV Id: RCV003563737

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226558A>C , CM000673.2:g.5226558A>C	GRCh38
NC_000011.9:g.5247788A>C , CM000673.1:g.5247788A>C	GRCh37
NC_000011.8:g.5204364A>C	NCBI36
NG_000007.3:g.71058T>G
NG_059281.1:g.5514T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+19T>G	ENSP00000494175.1:n.315+19T>G
ENST00000335295.4:c.315+19T>G MANE Select	ENSP00000333994.3:n.315+19T>G
ENST00000475226.1:n.247+19T>G
ENST00000485743.1:n.385T>G
ENST00000633227.1:c.*131+19T>G	ENSP00000488004.1:n.*131+19T>G
NM_000518.4:c.315+19T>G	NP_000509.1:n.315+19T>G
NM_000518.5:c.315+19T>G MANE Select	NP_000509.1:n.315+19T>G