Canonical Allele Identifier: CA125088

Gene: HBB

Linked Data

• ClinVar Variation Id: 15302
• ClinVar RCV Id: RCV000016537 ; RCV000029964 ; RCV001811161
• dbSNP Id: rs33961886
• gnomAD v2: 11-5247965-C-T
• gnomAD v3: 11-5226735-C-T
• gnomAD v4: 11-5226735-C-T
• MyVariant Identifiers: chr11:g.5247965C>T (hg19) ; chr11:g.5226735C>T (hg38)
• PubMed: PMID:640855 ; PMID:5097135 ; PMID:10335988 ; PMID:15008267 ; PMID:16178917 ; PMID:18932067 ; PMID:23297836 ; PMID:24200101 ; PMID:27117572

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226735C>T , CM000673.2:g.5226735C>T	GRCh38
NC_000011.9:g.5247965C>T , CM000673.1:g.5247965C>T	GRCh37
NC_000011.8:g.5204541C>T	NCBI36
NG_000007.3:g.70881G>A
NG_059281.1:g.5337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.157G>A	ENSP00000494175.1:p.Asp53Asn
ENST00000335295.4:c.157G>A MANE Select	ENSP00000333994.3:p.Asp53Asn
ENST00000380315.2:c.157G>A	ENSP00000369671.2:p.Asp53Asn
ENST00000475226.1:n.89G>A
ENST00000485743.1:n.208G>A
ENST00000633227.1:c.141G>A	ENSP00000488004.1:p.Leu47=
NM_000518.4:c.157G>A	NP_000509.1:p.Asp53Asn
NM_000518.5:c.157G>A MANE Select	NP_000509.1:p.Asp53Asn