Canonical Allele Identifier: CA16609387

Gene: HBB

Linked Data

• ClinVar Variation Id: 393701
• ClinVar RCV Id: RCV000016721 ; RCV000445645 ; RCV000505872 ; RCV000762846 ; RCV000781451 ; RCV003488595
• dbSNP Id: rs33944208
• gnomAD v4: 11-5227159-G-T
• MyVariant Identifiers: chr11:g.5248389G>T (hg19) ; chr11:g.5227159G>T (hg38)
• PubMed: PMID:1986379 ; PMID:20301599 ; PMID:23321370 ; PMID:24880717 ; PMID:26076395 ; PMID:27756326

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227159G>T , CM000673.2:g.5227159G>T	GRCh38
NC_000011.9:g.5248389G>T , CM000673.1:g.5248389G>T	GRCh37
NC_000011.8:g.5204965G>T	NCBI36
NG_000007.3:g.70457C>A
NG_059281.1:g.4913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-138C>A	ENSP00000494175.1:n.-138C>A
ENST00000380315.2:c.-18-120C>A	ENSP00000369671.2:n.-18-120C>A