Canonical Allele Identifier: CA125090

Gene: HBB

Linked Data

• ClinVar Variation Id: 15303
• ClinVar RCV Id: RCV000016538 ; RCV000016539
• dbSNP Id: rs33978082
• gnomAD v2: 11-5246922-T-C
• gnomAD v4: 11-5225692-T-C
• COSMIC: COSM927846
• MyVariant Identifiers: chr11:g.5246922T>C (hg19) ; chr11:g.5225692T>C (hg38)
• PubMed: PMID:42311 ; PMID:4749206 ; PMID:14109943

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225692T>C , CM000673.2:g.5225692T>C	GRCh38
NC_000011.9:g.5246922T>C , CM000673.1:g.5246922T>C	GRCh37
NC_000011.8:g.5203498T>C	NCBI36
NG_000007.3:g.71924A>G
NG_059281.1:g.6380A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.350A>G	ENSP00000494175.1:p.His117Arg
ENST00000335295.4:c.350A>G MANE Select	ENSP00000333994.3:p.His117Arg
ENST00000475226.1:n.282A>G
ENST00000633227.1:c.*166A>G	ENSP00000488004.1:n.*166A>G
NM_000518.4:c.350A>G	NP_000509.1:p.His117Arg
NM_000518.5:c.350A>G MANE Select	NP_000509.1:p.His117Arg