Canonical Allele Identifier: CA597217537

Gene: HBB

Linked Data

• ClinVar Variation Id: 1115280
• ClinVar RCV Id: RCV001443269 ; RCV001581132
• dbSNP Id: rs1232651664
• gnomAD v2: 11-5247055-A-C
• gnomAD v3: 11-5225825-A-C
• gnomAD v4: 11-5225825-A-C
• MyVariant Identifiers: chr11:g.5247055A>C (hg19) ; chr11:g.5225825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225825A>C , CM000673.2:g.5225825A>C	GRCh38
NC_000011.9:g.5247055A>C , CM000673.1:g.5247055A>C	GRCh37
NC_000011.8:g.5203631A>C	NCBI36
NG_000007.3:g.71791T>G
NG_059281.1:g.6247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-99T>G	ENSP00000494175.1:n.316-99T>G
ENST00000335295.4:c.316-99T>G MANE Select	ENSP00000333994.3:n.316-99T>G
ENST00000475226.1:n.248-99T>G
ENST00000633227.1:c.*132-99T>G	ENSP00000488004.1:n.*132-99T>G
NM_000518.4:c.316-99T>G	NP_000509.1:n.316-99T>G
NM_000518.5:c.316-99T>G MANE Select	NP_000509.1:n.316-99T>G