Canonical Allele Identifier: CA125086

Gene: HBB

Linked Data

• ClinVar Variation Id: 15300
• ClinVar RCV Id: RCV000016533 ; RCV000641556 ; RCV000759801 ; RCV002496379
• dbSNP Id: rs35890959
• gnomAD v2: 11-5248191-C-T
• gnomAD v3: 11-5226961-C-T
• gnomAD v4: 11-5226961-C-T
• COSMIC: COSM3734918
• MyVariant Identifiers: chr11:g.5248191C>T (hg19) ; chr11:g.5226961C>T (hg38)
• PubMed: PMID:3691763 ; PMID:4683875 ; PMID:6745619

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226961C>T , CM000673.2:g.5226961C>T	GRCh38
NC_000011.9:g.5248191C>T , CM000673.1:g.5248191C>T	GRCh37
NC_000011.8:g.5204767C>T	NCBI36
NG_000007.3:g.70655G>A
NG_059281.1:g.5111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.61G>A	ENSP00000494175.1:p.Val21Met
ENST00000335295.4:c.61G>A MANE Select	ENSP00000333994.3:p.Val21Met
ENST00000380315.2:c.61G>A	ENSP00000369671.2:p.Val21Met
ENST00000485743.1:n.112G>A
ENST00000633227.1:c.61G>A	ENSP00000488004.1:p.Val21Met
NM_000518.4:c.61G>A	NP_000509.1:p.Val21Met
NM_000518.5:c.61G>A MANE Select	NP_000509.1:p.Val21Met