Canonical Allele Identifier: CA342841

Gene: HBB

Linked Data

• ClinVar Variation Id: 36282
• ClinVar RCV Id: RCV000029947 ; RCV000861030
• dbSNP Id: rs72561473
• gnomAD v2: 11-5248384-C-T
• gnomAD v3: 11-5227154-C-T
• gnomAD v4: 11-5227154-C-T
• MyVariant Identifiers: chr11:g.5248384C>T (hg19) ; chr11:g.5227154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227154C>T , CM000673.2:g.5227154C>T	GRCh38
NC_000011.9:g.5248384C>T , CM000673.1:g.5248384C>T	GRCh37
NC_000011.8:g.5204960C>T	NCBI36
NG_000007.3:g.70462G>A
NG_059281.1:g.4918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-133G>A	ENSP00000494175.1:n.-133G>A
ENST00000380315.2:c.-18-115G>A	ENSP00000369671.2:n.-18-115G>A