Canonical Allele Identifier: CA125309

Gene: HBB

Linked Data

• ClinVar Variation Id: 15446
• ClinVar RCV Id: RCV000016704 ; RCV000508208 ; RCV000587419
• dbSNP Id: rs33943001
• COSMIC: COSM5525034
• MyVariant Identifiers: chr11:g.5248030C>T (hg19) ; chr11:g.5226800C>T (hg38)
• PubMed: PMID:711920 ; PMID:2200760 ; PMID:2283297 ; PMID:10706767 ; PMID:15008262 ; PMID:18294253 ; PMID:21333566 ; PMID:25525159 ; PMID:27339814 ; PMID:27981798

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226800C>T , CM000673.2:g.5226800C>T	GRCh38
NC_000011.9:g.5248030C>T , CM000673.1:g.5248030C>T	GRCh37
NC_000011.8:g.5204606C>T	NCBI36
NG_000007.3:g.70816G>A
NG_059281.1:g.5272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-1G>A	ENSP00000494175.1:n.93-1G>A
ENST00000335295.4:c.93-1G>A MANE Select	ENSP00000333994.3:n.93-1G>A
ENST00000380315.2:c.93-1G>A	ENSP00000369671.2:n.93-1G>A
ENST00000475226.1:n.24G>A
ENST00000485743.1:n.144-1G>A
ENST00000633227.1:c.77-1G>A	ENSP00000488004.1:n.77-1G>A
NM_000518.4:c.93-1G>A	NP_000509.1:n.93-1G>A
NM_000518.5:c.93-1G>A MANE Select	NP_000509.1:n.93-1G>A