Canonical Allele Identifier: CA125305

Gene: HBB

Linked Data

• ClinVar Variation Id: 15438
• ClinVar RCV Id: RCV000016696 ; RCV000020332 ; RCV000255349 ; RCV001004566 ; RCV001731303 ; RCV001723572 ; RCV002476979 ; RCV002288502 ; RCV003987325
• dbSNP Id: rs33945777
• ExAC: 11:5247806 C / T
• gnomAD v2: 11-5247806-C-T
• gnomAD v3: 11-5226576-C-T
• gnomAD v4: 11-5226576-C-T
• MyVariant Identifiers: chr11:g.5247806C>T (hg19) ; chr11:g.5226576C>T (hg38)
• PubMed: PMID:1427786 ; PMID:1483699 ; PMID:1634368 ; PMID:2446680 ; PMID:2903765 ; PMID:3422218 ; PMID:3462712 ; PMID:7151176 ; PMID:7558878 ; PMID:8917506 ; PMID:9490703 ; PMID:12144057 ; PMID:15654898 ; PMID:20301599 ; PMID:23590658 ; PMID:25332589 ; PMID:25525159 ; PMID:26193974 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226576C>T , CM000673.2:g.5226576C>T	GRCh38
NC_000011.9:g.5247806C>T , CM000673.1:g.5247806C>T	GRCh37
NC_000011.8:g.5204382C>T	NCBI36
NG_000007.3:g.71040G>A
NG_059281.1:g.5496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+1G>A	ENSP00000494175.1:n.315+1G>A
ENST00000335295.4:c.315+1G>A MANE Select	ENSP00000333994.3:n.315+1G>A
ENST00000475226.1:n.247+1G>A
ENST00000485743.1:n.367G>A
ENST00000633227.1:c.*131+1G>A	ENSP00000488004.1:n.*131+1G>A
NM_000518.4:c.315+1G>A	NP_000509.1:n.315+1G>A
NM_000518.5:c.315+1G>A MANE Select	NP_000509.1:n.315+1G>A