Canonical Allele Identifier: CA217115853

Gene: HBB

Linked Data

• ClinVar Variation Id: 869328
• ClinVar RCV Id: RCV001078395
• dbSNP Id: rs33944208
• gnomAD v4: 11-5227159-G-C
• MyVariant Identifiers: chr11:g.5248389G>C (hg19) ; chr11:g.5227159G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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