Canonical Allele Identifier: CA124812

Gene: HBB

Linked Data

• ClinVar Variation Id: 15146
• ClinVar RCV Id: RCV000016309 ; RCV001823097
• dbSNP Id: rs35939430
• ExAC: 11:5246884 C / G
• gnomAD v2: 11-5246884-C-G
• MyVariant Identifiers: chr11:g.5246884C>G (hg19) ; chr11:g.5225654C>G (hg38)
• PubMed: PMID:36184 ; PMID:15658190

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225654C>G , CM000673.2:g.5225654C>G	GRCh38
NC_000011.9:g.5246884C>G , CM000673.1:g.5246884C>G	GRCh37
NC_000011.8:g.5203460C>G	NCBI36
NG_000007.3:g.71962G>C
NG_059281.1:g.6418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.388G>C	ENSP00000494175.1:p.Ala130Pro
ENST00000335295.4:c.388G>C MANE Select	ENSP00000333994.3:p.Ala130Pro
ENST00000633227.1:c.*204G>C	ENSP00000488004.1:n.*204G>C
NM_000518.4:c.388G>C	NP_000509.1:p.Ala130Pro
NM_000518.5:c.388G>C MANE Select	NP_000509.1:p.Ala130Pro