Canonical Allele Identifier: CA125267

Gene: HBB

Linked Data

• ClinVar Variation Id: 15406
• ClinVar RCV Id: RCV000016660 ; RCV000506797 ; RCV000780310 ; RCV000665678 ; RCV001004568
• dbSNP Id: rs33922842
• gnomAD v2: 11-5247992-C-A
• MyVariant Identifiers: chr11:g.5247992C>A (hg19) ; chr11:g.5247992_5247996delinsAAAAG (hg19) ; chr11:g.5226762C>A (hg38)
• PubMed: PMID:3403716 ; PMID:25000193

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226762C>A , CM000673.2:g.5226762C>A	GRCh38
NC_000011.9:g.5247992C>A , CM000673.1:g.5247992C>A	GRCh37
NC_000011.8:g.5204568C>A	NCBI36
NG_000007.3:g.70854G>T
NG_059281.1:g.5310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.130G>T	ENSP00000494175.1:p.Glu44Ter
ENST00000335295.4:c.130G>T MANE Select	ENSP00000333994.3:p.Glu44Ter
ENST00000380315.2:c.130G>T	ENSP00000369671.2:p.Glu44Ter
ENST00000475226.1:n.62G>T
ENST00000485743.1:n.181G>T
ENST00000633227.1:c.114G>T	ENSP00000488004.1:p.Leu38Phe
NM_000518.4:c.130G>T	NP_000509.1:p.Glu44Ter
NM_000518.5:c.130G>T MANE Select	NP_000509.1:p.Glu44Ter