Canonical Allele Identifier: CA125314

Gene: HBB

Linked Data

• ClinVar Variation Id: 15451
• ClinVar RCV Id: RCV000016709 ; RCV000029987 ; RCV000506607 ; RCV000984183 ; RCV002496382 ; RCV004528115
• dbSNP Id: rs33913413
• ExAC: 11:5246959 G / T
• gnomAD v2: 11-5246959-G-T
• gnomAD v3: 11-5225729-G-T
• gnomAD v4: 11-5225729-G-T
• MyVariant Identifiers: chr11:g.5246959G>T (hg19) ; chr11:g.5225729G>T (hg38)
• PubMed: PMID:2458145 ; PMID:2920213 ; PMID:9140720 ; PMID:20704537 ; PMID:25087612 ; PMID:25617386 ; PMID:27756326 ; PMID:28276871

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225729G>T , CM000673.2:g.5225729G>T	GRCh38
NC_000011.9:g.5246959G>T , CM000673.1:g.5246959G>T	GRCh37
NC_000011.8:g.5203535G>T	NCBI36
NG_000007.3:g.71887C>A
NG_059281.1:g.6343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-3C>A	ENSP00000494175.1:n.316-3C>A
ENST00000335295.4:c.316-3C>A MANE Select	ENSP00000333994.3:n.316-3C>A
ENST00000475226.1:n.248-3C>A
ENST00000633227.1:c.*132-3C>A	ENSP00000488004.1:n.*132-3C>A
NM_000518.4:c.316-3C>A	NP_000509.1:n.316-3C>A
NM_000518.5:c.316-3C>A MANE Select	NP_000509.1:n.316-3C>A