Canonical Allele Identifier: CA124714

Gene: HBB

Linked Data

• ClinVar Variation Id: 15090
• ClinVar RCV Id: RCV000016243 ; RCV001284490
• dbSNP Id: rs33918338
• gnomAD v2: 11-5246841-T-C
• gnomAD v4: 11-5225611-T-C
• MyVariant Identifiers: chr11:g.5246841T>C (hg19) ; chr11:g.5225611T>C (hg38)
• PubMed: PMID:2283301

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225611T>C , CM000673.2:g.5225611T>C	GRCh38
NC_000011.9:g.5246841T>C , CM000673.1:g.5246841T>C	GRCh37
NC_000011.8:g.5203417T>C	NCBI36
NG_000007.3:g.72005A>G
NG_059281.1:g.6461A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.431A>G	ENSP00000494175.1:p.His144Arg
ENST00000335295.4:c.431A>G MANE Select	ENSP00000333994.3:p.His144Arg
ENST00000633227.1:c.*247A>G	ENSP00000488004.1:n.*247A>G
NM_000518.4:c.431A>G	NP_000509.1:p.His144Arg
NM_000518.5:c.431A>G MANE Select	NP_000509.1:p.His144Arg