Canonical Allele Identifier: CA124822

Gene: HBB

Linked Data

• ClinVar Variation Id: 15151
• ClinVar RCV Id: RCV000016314 ; RCV000589411
• dbSNP Id: rs33959855
• ExAC: 11:5248185 C / G
• gnomAD v2: 11-5248185-C-G
• gnomAD v3: 11-5226955-C-G
• gnomAD v4: 11-5226955-C-G
• MyVariant Identifiers: chr11:g.5248185C>G (hg19) ; chr11:g.5226955C>G (hg38)
• PubMed: PMID:4715135 ; PMID:4725603 ; PMID:6434492 ; PMID:7073867 ; PMID:8195010 ; PMID:11196276 ; PMID:17655708 ; PMID:19429541 ; PMID:19783722 ; PMID:20090224 ; PMID:20309827 ; PMID:20838957 ; PMID:23543793 ; PMID:25023086 ; PMID:25332633

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226955C>G , CM000673.2:g.5226955C>G	GRCh38
NC_000011.9:g.5248185C>G , CM000673.1:g.5248185C>G	GRCh37
NC_000011.8:g.5204761C>G	NCBI36
NG_000007.3:g.70661G>C
NG_059281.1:g.5117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.67G>C	ENSP00000494175.1:p.Glu23Gln
ENST00000335295.4:c.67G>C MANE Select	ENSP00000333994.3:p.Glu23Gln
ENST00000380315.2:c.67G>C	ENSP00000369671.2:p.Glu23Gln
ENST00000485743.1:n.118G>C
ENST00000633227.1:c.67G>C	ENSP00000488004.1:p.Glu23Gln
NM_000518.4:c.67G>C	NP_000509.1:p.Glu23Gln
NM_000518.5:c.67G>C MANE Select	NP_000509.1:p.Glu23Gln