Canonical Allele Identifier: CA342876

Gene: HBB

Linked Data

• ClinVar Variation Id: 36334
• ClinVar RCV Id: RCV000030003 ; RCV000506748 ; RCV002496456 ; RCV003991531
• dbSNP Id: rs33956879
• gnomAD v2: 11-5248158-A-G
• gnomAD v3: 11-5226928-A-G
• gnomAD v4: 11-5226928-A-G
• MyVariant Identifiers: chr11:g.5248158A>G (hg19) ; chr11:g.5226928A>G (hg38)
• PubMed: PMID:2393712 ; PMID:2917118 ; PMID:8037197 ; PMID:15008262 ; PMID:20406103 ; PMID:24986053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226928A>G , CM000673.2:g.5226928A>G	GRCh38
NC_000011.9:g.5248158A>G , CM000673.1:g.5248158A>G	GRCh37
NC_000011.8:g.5204734A>G	NCBI36
NG_000007.3:g.70688T>C
NG_059281.1:g.5144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92+2T>C	ENSP00000494175.1:n.92+2T>C
ENST00000335295.4:c.92+2T>C MANE Select	ENSP00000333994.3:n.92+2T>C
ENST00000380315.2:c.92+2T>C	ENSP00000369671.2:n.92+2T>C
ENST00000485743.1:n.143+2T>C
ENST00000633227.1:c.76+18T>C	ENSP00000488004.1:n.76+18T>C
NM_000518.4:c.92+2T>C	NP_000509.1:n.92+2T>C
NM_000518.5:c.92+2T>C MANE Select	NP_000509.1:n.92+2T>C