Canonical Allele Identifier: CA217115654

Gene: HBB

Linked Data

• ClinVar Variation Id: 439140
• ClinVar RCV Id: RCV000507448 ; RCV000780324 ; RCV001078261
• dbSNP Id: rs34563000
• gnomAD v3: 11-5227021-T-C
• gnomAD v4: 11-5227021-T-C
• MyVariant Identifiers: chr11:g.5248251T>C (hg19) ; chr11:g.5227021T>C (hg38)
• PubMed: PMID:1686262 ; PMID:8225319 ; PMID:15315794 ; PMID:19429541 ; PMID:28603845

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227021T>C , CM000673.2:g.5227021T>C	GRCh38
NC_000011.9:g.5248251T>C , CM000673.1:g.5248251T>C	GRCh37
NC_000011.8:g.5204827T>C	NCBI36
NG_000007.3:g.70595A>G
NG_059281.1:g.5051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.1A>G	ENSP00000494175.1:p.Met1Val
ENST00000335295.4:c.1A>G MANE Select	ENSP00000333994.3:p.Met1Val
ENST00000380315.2:c.1A>G	ENSP00000369671.2:p.Met1Val
ENST00000485743.1:n.52A>G
ENST00000633227.1:c.1A>G	ENSP00000488004.1:p.Met1Val
NM_000518.4:c.1A>G	NP_000509.1:p.Met1Val
NM_000518.5:c.1A>G MANE Select	NP_000509.1:p.Met1Val