Canonical Allele Identifier: CA125347

Gene: HBB

Linked Data

• ClinVar Variation Id: 15488
• ClinVar RCV Id: RCV000016748 ; RCV000506983 ; RCV000445654 ; RCV001193152
• dbSNP Id: rs63751128
• gnomAD v3: 11-5225487-T-C
• gnomAD v4: 11-5225487-T-C
• MyVariant Identifiers: chr11:g.5246717T>C (hg19) ; chr11:g.5225487T>C (hg38)
• PubMed: PMID:1856830 ; PMID:2375910 ; PMID:3024968 ; PMID:6646217 ; PMID:20301599 ; PMID:26418075 ; PMID:26956563

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225487T>C , CM000673.2:g.5225487T>C	GRCh38
NC_000011.9:g.5246717T>C , CM000673.1:g.5246717T>C	GRCh37
NC_000011.8:g.5203293T>C	NCBI36
NG_000007.3:g.72129A>G
NG_059281.1:g.6585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*111A>G	ENSP00000494175.1:n.*111A>G
ENST00000335295.4:c.*111A>G MANE Select	ENSP00000333994.3:n.*111A>G
ENST00000633227.1:c.*371A>G	ENSP00000488004.1:n.*371A>G
NM_000518.4:c.*111A>G	NP_000509.1:n.*111A>G
NM_000518.5:c.*111A>G MANE Select	NP_000509.1:n.*111A>G