Canonical Allele Identifier: CA217115785

Gene: HBB

Linked Data

• ClinVar Variation Id: 439163
• ClinVar RCV Id: RCV000507303 ; RCV000855594 ; RCV001078343
• dbSNP Id: rs34500389
• gnomAD v4: 11-5227103-G-A
• MyVariant Identifiers: chr11:g.5248333G>A (hg19) ; chr11:g.5227103G>A (hg38)
• PubMed: PMID:17486493 ; PMID:23590658 ; PMID:26554738 ; PMID:28385923

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227103G>A , CM000673.2:g.5227103G>A	GRCh38
NC_000011.9:g.5248333G>A , CM000673.1:g.5248333G>A	GRCh37
NC_000011.8:g.5204909G>A	NCBI36
NG_000007.3:g.70513C>T
NG_059281.1:g.4969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-82C>T	ENSP00000494175.1:n.-82C>T
ENST00000380315.2:c.-18-64C>T	ENSP00000369671.2:n.-18-64C>T