Canonical Allele Identifier: CA217115768

Gene: HBB

Linked Data

• ClinVar Variation Id: 869289
• ClinVar RCV Id: RCV001078341
• dbSNP Id: rs33980857
• MyVariant Identifiers: chr11:g.5248331A>C (hg19) ; chr11:g.5227101A>C (hg38)

Genomic Alleles

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

Transcript Alleles

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