Canonical Allele Identifier: CA125312

Gene: HBB

Linked Data

• ClinVar Variation Id: 15449
• ClinVar RCV Id: RCV000016707 ; RCV000030004 ; RCV001216321
• dbSNP Id: rs33915217
• gnomAD v2: 11-5248155-C-T
• gnomAD v4: 11-5226925-C-T
• MyVariant Identifiers: chr11:g.5248155C>T (hg19) ; chr11:g.5226925C>T (hg38)
• PubMed: PMID:1917531 ; PMID:2200760 ; PMID:3021139 ; PMID:3671081 ; PMID:10815781 ; PMID:15315794 ; PMID:22975760 ; PMID:23590658

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226925C>T , CM000673.2:g.5226925C>T	GRCh38
NC_000011.9:g.5248155C>T , CM000673.1:g.5248155C>T	GRCh37
NC_000011.8:g.5204731C>T	NCBI36
NG_000007.3:g.70691G>A
NG_059281.1:g.5147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92+5G>A	ENSP00000494175.1:n.92+5G>A
ENST00000335295.4:c.92+5G>A MANE Select	ENSP00000333994.3:n.92+5G>A
ENST00000380315.2:c.92+5G>A	ENSP00000369671.2:n.92+5G>A
ENST00000485743.1:n.143+5G>A
ENST00000633227.1:c.76+21G>A	ENSP00000488004.1:n.76+21G>A
NM_000518.4:c.92+5G>A	NP_000509.1:n.92+5G>A
NM_000518.5:c.92+5G>A MANE Select	NP_000509.1:n.92+5G>A