Canonical Allele Identifier: CA125311

Gene: HBB

Linked Data

• ClinVar Variation Id: 15448
• ClinVar RCV Id: RCV000016706 ; RCV000030005 ; RCV000505898 ; RCV000984182
• dbSNP Id: rs33915217
• gnomAD v2: 11-5248155-C-A
• gnomAD v4: 11-5226925-C-A
• MyVariant Identifiers: chr11:g.5248155C>A (hg19) ; chr11:g.5226925C>A (hg38)
• PubMed: PMID:2439149 ; PMID:2458145 ; PMID:2703241 ; PMID:8330981

Genomic Alleles

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

Transcript Alleles

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