Canonical Allele Identifier: CA125303

Gene: HBB

Linked Data

• ClinVar Variation Id: 15436
• ClinVar RCV Id: RCV000016694 ; RCV000020340 ; RCV000390929 ; RCV001004350 ; RCV001329338 ; RCV002288501 ; RCV002476978
• dbSNP Id: rs33971440
• ExAC: 11:5248159 C / T
• gnomAD v2: 11-5248159-C-T
• gnomAD v3: 11-5226929-C-T
• gnomAD v4: 11-5226929-C-T
• MyVariant Identifiers: chr11:g.5248159C>T (hg19) ; chr11:g.5226929C>T (hg38)
• PubMed: PMID:1390250 ; PMID:1634236 ; PMID:2200760 ; PMID:2283297 ; PMID:6188062 ; PMID:6280057 ; PMID:8602996 ; PMID:20301599 ; PMID:25155404

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226929C>T , CM000673.2:g.5226929C>T	GRCh38
NC_000011.9:g.5248159C>T , CM000673.1:g.5248159C>T	GRCh37
NC_000011.8:g.5204735C>T	NCBI36
NG_000007.3:g.70687G>A
NG_059281.1:g.5143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.92+1G>A	ENSP00000494175.1:n.92+1G>A
ENST00000335295.4:c.92+1G>A MANE Select	ENSP00000333994.3:n.92+1G>A
ENST00000380315.2:c.92+1G>A	ENSP00000369671.2:n.92+1G>A
ENST00000485743.1:n.143+1G>A
ENST00000633227.1:c.76+17G>A	ENSP00000488004.1:n.76+17G>A
NM_000518.4:c.92+1G>A	NP_000509.1:n.92+1G>A
NM_000518.5:c.92+1G>A MANE Select	NP_000509.1:n.92+1G>A