Canonical Allele Identifier: CA597217541

Gene: HBB

Linked Data

• dbSNP Id: rs1410738431
• gnomAD v2: 11-5247111-A-G
• gnomAD v3: 11-5225881-A-G
• gnomAD v4: 11-5225881-A-G
• MyVariant Identifiers: chr11:g.5247111A>G (hg19) ; chr11:g.5225881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225881A>G , CM000673.2:g.5225881A>G	GRCh38
NC_000011.9:g.5247111A>G , CM000673.1:g.5247111A>G	GRCh37
NC_000011.8:g.5203687A>G	NCBI36
NG_000007.3:g.71735T>C
NG_059281.1:g.6191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-155T>C	ENSP00000494175.1:n.316-155T>C
ENST00000335295.4:c.316-155T>C MANE Select	ENSP00000333994.3:n.316-155T>C
ENST00000475226.1:n.248-155T>C
ENST00000633227.1:c.*132-155T>C	ENSP00000488004.1:n.*132-155T>C
NM_000518.4:c.316-155T>C	NP_000509.1:n.316-155T>C
NM_000518.5:c.316-155T>C MANE Select	NP_000509.1:n.316-155T>C