Canonical Allele Identifier: CA217115390

Gene: HBB

Linked Data

• ClinVar Variation Id: 38646
• ClinVar RCV Id: RCV000508624 ; RCV000589075
• dbSNP Id: rs34716011
• gnomAD v3: 11-5226974-C-T
• gnomAD v4: 11-5226974-C-T
• MyVariant Identifiers: chr11:g.5248204C>T (hg19) ; chr11:g.5226974C>T (hg38)
• PubMed: PMID:1428946 ; PMID:1581247 ; PMID:2298457 ; PMID:6714226 ; PMID:9101288 ; PMID:19488752 ; PMID:21389146 ; PMID:22875618 ; PMID:27453201

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226974C>T , CM000673.2:g.5226974C>T	GRCh38
NC_000011.9:g.5248204C>T , CM000673.1:g.5248204C>T	GRCh37
NC_000011.8:g.5204780C>T	NCBI36
NG_000007.3:g.70642G>A
NG_059281.1:g.5098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.48G>A	ENSP00000494175.1:p.Trp16Ter
ENST00000335295.4:c.48G>A MANE Select	ENSP00000333994.3:p.Trp16Ter
ENST00000380315.2:c.48G>A	ENSP00000369671.2:p.Trp16Ter
ENST00000485743.1:n.99G>A
ENST00000633227.1:c.48G>A	ENSP00000488004.1:p.Trp16Ter
NM_000518.4:c.48G>A	NP_000509.1:p.Trp16Ter
NM_000518.5:c.48G>A MANE Select	NP_000509.1:p.Trp16Ter