Canonical Allele Identifier: CA125265

Gene: HBB

Linked Data

• ClinVar Variation Id: 15405
• ClinVar RCV Id: RCV000016659 ; RCV000169502 ; RCV000506223 ; RCV000781456 ; RCV000999750
• dbSNP Id: rs33974936
• gnomAD v3: 11-5226778-C-T
• gnomAD v4: 11-5226778-C-T
• COSMIC: COSM4522197
• MyVariant Identifiers: chr11:g.5248008C>T (hg19) ; chr11:g.5226778C>T (hg38)
• PubMed: PMID:1520612 ; PMID:3006832 ; PMID:7852087 ; PMID:15008262 ; PMID:20395516 ; PMID:21797703 ; PMID:23321370 ; PMID:23510507

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226778C>T , CM000673.2:g.5226778C>T	GRCh38
NC_000011.9:g.5248008C>T , CM000673.1:g.5248008C>T	GRCh37
NC_000011.8:g.5204584C>T	NCBI36
NG_000007.3:g.70838G>A
NG_059281.1:g.5294G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.114G>A	ENSP00000494175.1:p.Trp38Ter
ENST00000335295.4:c.114G>A MANE Select	ENSP00000333994.3:p.Trp38Ter
ENST00000380315.2:c.114G>A	ENSP00000369671.2:p.Trp38Ter
ENST00000475226.1:n.46G>A
ENST00000485743.1:n.165G>A
ENST00000633227.1:c.98G>A	ENSP00000488004.1:p.Gly33Glu
NM_000518.4:c.114G>A	NP_000509.1:p.Trp38Ter
NM_000518.5:c.114G>A MANE Select	NP_000509.1:p.Trp38Ter