Canonical Allele Identifier: CA124991

Gene: HBB

Linked Data

• ClinVar Variation Id: 15244
• ClinVar RCV Id: RCV000016449 ; RCV000587238 ; RCV000855647 ; RCV001826465
• dbSNP Id: rs33945705
• ExAC: 11:5247902 C / T
• gnomAD v2: 11-5247902-C-T
• gnomAD v3: 11-5226672-C-T
• gnomAD v4: 11-5226672-C-T
• MyVariant Identifiers: chr11:g.5247902C>T (hg19) ; chr11:g.5226672C>T (hg38)
• PubMed: PMID:700140 ; PMID:893136 ; PMID:974261 ; PMID:1148394 ; PMID:2930724 ; PMID:5481775 ; PMID:5722880 ; PMID:6016610 ; PMID:6671904 ; PMID:6859036 ; PMID:7691242 ; PMID:11734002 ; PMID:14197371 ; PMID:15333505 ; PMID:15543018 ; PMID:20838957 ; PMID:21733559 ; PMID:22244832 ; PMID:23457306

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226672C>T , CM000673.2:g.5226672C>T	GRCh38
NC_000011.9:g.5247902C>T , CM000673.1:g.5247902C>T	GRCh37
NC_000011.8:g.5204478C>T	NCBI36
NG_000007.3:g.70944G>A
NG_059281.1:g.5400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.220G>A	ENSP00000494175.1:p.Asp74Asn
ENST00000335295.4:c.220G>A MANE Select	ENSP00000333994.3:p.Asp74Asn
ENST00000380315.2:c.220G>A	ENSP00000369671.2:p.Asp74Asn
ENST00000475226.1:n.152G>A
ENST00000485743.1:n.271G>A
ENST00000633227.1:c.*36G>A	ENSP00000488004.1:n.*36G>A
NM_000518.4:c.220G>A	NP_000509.1:p.Asp74Asn
NM_000518.5:c.220G>A MANE Select	NP_000509.1:p.Asp74Asn