Canonical Allele Identifier: CA341711

Gene: HBB

Linked Data

• ClinVar Variation Id: 21191
• ClinVar RCV Id: RCV000016701 ; RCV000020336 ; RCV000508360 ; RCV001004562 ; RCV002504815 ; RCV003389313
• dbSNP Id: rs33914668
• ExAC: 11:5246958 T / C
• gnomAD v2: 11-5246958-T-C
• gnomAD v3: 11-5225728-T-C
• gnomAD v4: 11-5225728-T-C
• MyVariant Identifiers: chr11:g.5246958T>C (hg19) ; chr11:g.5225728T>C (hg38)
• PubMed: PMID:1897518 ; PMID:2123063 ; PMID:2987809 ; PMID:6583702 ; PMID:7632967 ; PMID:8118466 ; PMID:9342003 ; PMID:20301599 ; PMID:21250876 ; PMID:22563936 ; PMID:22975760 ; PMID:22981786 ; PMID:23348723 ; PMID:27251090

Genomic Alleles

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

Transcript Alleles

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