Canonical Allele Identifier: CA125316

Gene: HBB

Linked Data

• ClinVar Variation Id: 15457
• ClinVar RCV Id: RCV000016715 ; RCV000029978 ; RCV000506445 ; RCV001004564 ; RCV002476980 ; RCV002272021 ; RCV002288505
• dbSNP Id: rs34690599
• gnomAD v3: 11-5225832-G-C
• gnomAD v4: 11-5225832-G-C
• MyVariant Identifiers: chr11:g.5247062G>C (hg19) ; chr11:g.5225832G>C (hg38)
• PubMed: PMID:2200760 ; PMID:2713503 ; PMID:6188062 ; PMID:6280057 ; PMID:8330981 ; PMID:11559932 ; PMID:20301599 ; PMID:23425204 ; PMID:23891399 ; PMID:25155404

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225832G>C , CM000673.2:g.5225832G>C	GRCh38
NC_000011.9:g.5247062G>C , CM000673.1:g.5247062G>C	GRCh37
NC_000011.8:g.5203638G>C	NCBI36
NG_000007.3:g.71784C>G
NG_059281.1:g.6240C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-106C>G	ENSP00000494175.1:n.316-106C>G
ENST00000335295.4:c.316-106C>G MANE Select	ENSP00000333994.3:n.316-106C>G
ENST00000475226.1:n.248-106C>G
ENST00000633227.1:c.*132-106C>G	ENSP00000488004.1:n.*132-106C>G
NM_000518.4:c.316-106C>G	NP_000509.1:n.316-106C>G
NM_000518.5:c.316-106C>G MANE Select	NP_000509.1:n.316-106C>G