Canonical Allele Identifier: CA16609385

Gene: HBB

Linked Data

• ClinVar Variation Id: 393702
• ClinVar RCV Id: RCV000445640 ; RCV000781439 ; RCV002522735
• dbSNP Id: rs34704828
• gnomAD v3: 11-5227050-C-T
• gnomAD v4: 11-5227050-C-T
• MyVariant Identifiers: chr11:g.5248280C>T (hg19) ; chr11:g.5227050C>T (hg38)
• PubMed: PMID:20301599

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227050C>T , CM000673.2:g.5227050C>T	GRCh38
NC_000011.9:g.5248280C>T , CM000673.1:g.5248280C>T	GRCh37
NC_000011.8:g.5204856C>T	NCBI36
NG_000007.3:g.70566G>A
NG_059281.1:g.5022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-29G>A	ENSP00000494175.1:n.-29G>A
ENST00000335295.4:c.-29G>A MANE Select	ENSP00000333994.3:n.-29G>A
ENST00000380315.2:c.-18-11G>A	ENSP00000369671.2:n.-18-11G>A
ENST00000485743.1:n.23G>A
ENST00000633227.1:c.-29G>A	ENSP00000488004.1:n.-29G>A
NM_000518.4:c.-29G>A	NP_000509.1:n.-29G>A
NM_000518.5:c.-29G>A MANE Select	NP_000509.1:n.-29G>A