Canonical Allele Identifier: CA125310

Gene: HBB

Linked Data

• ClinVar Variation Id: 15447
• ClinVar RCV Id: RCV000016705 ; RCV000020341 ; RCV000255746 ; RCV000763253 ; RCV001004348 ; RCV001794453 ; RCV002288503 ; RCV003445071 ; RCV002444433 ; RCV003987326
• dbSNP Id: rs33915217
• ExAC: 11:5248155 C / G
• gnomAD v2: 11-5248155-C-G
• gnomAD v3: 11-5226925-C-G
• gnomAD v4: 11-5226925-C-G
• MyVariant Identifiers: chr11:g.5248155C>G (hg19) ; chr11:g.5226925C>G (hg38)
• PubMed: PMID:1463768 ; PMID:2004023 ; PMID:6188062 ; PMID:6585831 ; PMID:6714226 ; PMID:14576320 ; PMID:16291734 ; PMID:18294253 ; PMID:19000664 ; PMID:20132300 ; PMID:20301599 ; PMID:23234478 ; PMID:27263053 ; PMID:27690257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226925C>G , CM000673.2:g.5226925C>G	GRCh38
NC_000011.9:g.5248155C>G , CM000673.1:g.5248155C>G	GRCh37
NC_000011.8:g.5204731C>G	NCBI36
NG_000007.3:g.70691G>C
NG_059281.1:g.5147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92+5G>C	ENSP00000494175.1:n.92+5G>C
ENST00000335295.4:c.92+5G>C MANE Select	ENSP00000333994.3:n.92+5G>C
ENST00000380315.2:c.92+5G>C	ENSP00000369671.2:n.92+5G>C
ENST00000485743.1:n.143+5G>C
ENST00000633227.1:c.76+21G>C	ENSP00000488004.1:n.76+21G>C
NM_000518.4:c.92+5G>C	NP_000509.1:n.92+5G>C
NM_000518.5:c.92+5G>C MANE Select	NP_000509.1:n.92+5G>C