Canonical Allele Identifier: CA341710

Gene: HBB

Linked Data

• ClinVar Variation Id: 21190
• ClinVar RCV Id: RCV000016702 ; RCV000020335 ; RCV000507767 ; RCV001290616
• dbSNP Id: rs33914668
• gnomAD v3: 11-5225728-T-G
• gnomAD v4: 11-5225728-T-G
• MyVariant Identifiers: chr11:g.5246958T>G (hg19) ; chr11:g.5225728T>G (hg38)
• PubMed: PMID:2424301 ; PMID:15481884 ; PMID:20301599 ; PMID:22738642 ; PMID:22975760

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225728T>G , CM000673.2:g.5225728T>G	GRCh38
NC_000011.9:g.5246958T>G , CM000673.1:g.5246958T>G	GRCh37
NC_000011.8:g.5203534T>G	NCBI36
NG_000007.3:g.71888A>C
NG_059281.1:g.6344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-2A>C	ENSP00000494175.1:n.316-2A>C
ENST00000335295.4:c.316-2A>C MANE Select	ENSP00000333994.3:n.316-2A>C
ENST00000475226.1:n.248-2A>C
ENST00000633227.1:c.*132-2A>C	ENSP00000488004.1:n.*132-2A>C
NM_000518.4:c.316-2A>C	NP_000509.1:n.316-2A>C
NM_000518.5:c.316-2A>C MANE Select	NP_000509.1:n.316-2A>C