Canonical Allele Identifier: CA342841
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36282
dbSNP Id: rs72561473
gnomAD v2: 11-5248384-C-T
gnomAD v3: 11-5227154-C-T
gnomAD v4: 11-5227154-C-T

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