Canonical Allele Identifier: CA342877

Gene: HBB

Linked Data

• ClinVar Variation Id: 36337
• ClinVar RCV Id: RCV000030006 ; RCV000506003
• dbSNP Id: rs33960103
• gnomAD v2: 11-5248160-C-T
• gnomAD v4: 11-5226930-C-T
• COSMIC: COSM5893554
• MyVariant Identifiers: chr11:g.5248160C>T (hg19) ; chr11:g.5226930C>T (hg38)
• PubMed: PMID:2577233 ; PMID:19254853 ; PMID:19429541 ; PMID:20437613 ; PMID:25541274 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226930C>T , CM000673.2:g.5226930C>T	GRCh38
NC_000011.9:g.5248160C>T , CM000673.1:g.5248160C>T	GRCh37
NC_000011.8:g.5204736C>T	NCBI36
NG_000007.3:g.70686G>A
NG_059281.1:g.5142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92G>A	ENSP00000494175.1:p.Arg31Lys
ENST00000335295.4:c.92G>A MANE Select	ENSP00000333994.3:p.Arg31Lys
ENST00000380315.2:c.92G>A	ENSP00000369671.2:p.Arg31Lys
ENST00000485743.1:n.143G>A
ENST00000633227.1:c.76+16G>A	ENSP00000488004.1:n.76+16G>A
NM_000518.4:c.92G>A	NP_000509.1:p.Arg31Lys
NM_000518.5:c.92G>A MANE Select	NP_000509.1:p.Arg31Lys