Canonical Allele Identifier: CA217112852

Gene: HBB

Linked Data

• ClinVar Variation Id: 38671
• ClinVar RCV Id: RCV000506832 ; RCV001078269
• dbSNP Id: rs33952266
• gnomAD v4: 11-5225727-C-A
• MyVariant Identifiers: chr11:g.5246957C>A (hg19) ; chr11:g.5225727C>A (hg38)
• PubMed: PMID:9101288 ; PMID:22975760 ; PMID:26290351

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225727C>A , CM000673.2:g.5225727C>A	GRCh38
NC_000011.9:g.5246957C>A , CM000673.1:g.5246957C>A	GRCh37
NC_000011.8:g.5203533C>A	NCBI36
NG_000007.3:g.71889G>T
NG_059281.1:g.6345G>T

Transcript Alleles

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