Canonical Allele Identifier: CA217115773

Gene: HBB

Linked Data

• ClinVar Variation Id: 869290
• ClinVar RCV Id: RCV000016726 ; RCV001078342 ; RCV001284493
• dbSNP Id: rs33980857
• MyVariant Identifiers: chr11:g.5248331A>G (hg19) ; chr11:g.5227101A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227101A>G , CM000673.2:g.5227101A>G	GRCh38
NC_000011.9:g.5248331A>G , CM000673.1:g.5248331A>G	GRCh37
NC_000011.8:g.5204907A>G	NCBI36
NG_000007.3:g.70515T>C
NG_059281.1:g.4971T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-80T>C	ENSP00000494175.1:n.-80T>C
ENST00000380315.2:c.-18-62T>C	ENSP00000369671.2:n.-18-62T>C