Canonical Allele Identifier: CA342880

Gene: HBB

Linked Data

• ClinVar Variation Id: 36341
• ClinVar RCV Id: RCV000016710 ; RCV000030011 ; RCV002222330 ; RCV002477023
• dbSNP Id: rs34527846
• ExAC: 11:5248032 A / C
• gnomAD v2: 11-5248032-A-C
• gnomAD v4: 11-5226802-A-C
• MyVariant Identifiers: chr11:g.5248032A>C (hg19) ; chr11:g.5226802A>C (hg38)
• PubMed: PMID:2920213 ; PMID:8435318

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226802A>C , CM000673.2:g.5226802A>C	GRCh38
NC_000011.9:g.5248032A>C , CM000673.1:g.5248032A>C	GRCh37
NC_000011.8:g.5204608A>C	NCBI36
NG_000007.3:g.70814T>G
NG_059281.1:g.5270T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-3T>G	ENSP00000494175.1:n.93-3T>G
ENST00000335295.4:c.93-3T>G MANE Select	ENSP00000333994.3:n.93-3T>G
ENST00000380315.2:c.93-3T>G	ENSP00000369671.2:n.93-3T>G
ENST00000475226.1:n.22T>G
ENST00000485743.1:n.144-3T>G
ENST00000633227.1:c.77-3T>G	ENSP00000488004.1:n.77-3T>G
NM_000518.4:c.93-3T>G	NP_000509.1:n.93-3T>G
NM_000518.5:c.93-3T>G MANE Select	NP_000509.1:n.93-3T>G