Canonical Allele Identifier: CA125058

Gene: HBB

Linked Data

• ClinVar Variation Id: 15286
• ClinVar RCV Id: RCV000016516 ; RCV001284155
• dbSNP Id: rs34484056
• ExAC: 11:5246931 A / T
• gnomAD v2: 11-5246931-A-T
• gnomAD v3: 11-5225701-A-T
• gnomAD v4: 11-5225701-A-T
• MyVariant Identifiers: chr11:g.5246931A>T (hg19) ; chr11:g.5225701A>T (hg38)
• PubMed: PMID:893132 ; PMID:6030043 ; PMID:7353956 ; PMID:7437334

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225701A>T , CM000673.2:g.5225701A>T	GRCh38
NC_000011.9:g.5246931A>T , CM000673.1:g.5246931A>T	GRCh37
NC_000011.8:g.5203507A>T	NCBI36
NG_000007.3:g.71915T>A
NG_059281.1:g.6371T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.341T>A	ENSP00000494175.1:p.Val114Glu
ENST00000335295.4:c.341T>A MANE Select	ENSP00000333994.3:p.Val114Glu
ENST00000475226.1:n.273T>A
ENST00000633227.1:c.*157T>A	ENSP00000488004.1:n.*157T>A
NM_000518.4:c.341T>A	NP_000509.1:p.Val114Glu
NM_000518.5:c.341T>A MANE Select	NP_000509.1:p.Val114Glu