Canonical Allele Identifier: CA217114893
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1121778
ClinVar RCV Id: RCV001452192
dbSNP Id: rs962266675
gnomAD v2: 11-5248103-C-A
gnomAD v3: 11-5226873-C-A
gnomAD v4: 11-5226873-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226873C>A , CM000673.2:g.5226873C>A GRCh38
NC_000011.9:g.5248103C>A , CM000673.1:g.5248103C>A GRCh37
NC_000011.8:g.5204679C>A NCBI36
NG_000007.3:g.70743G>T
NG_059281.1:g.5199G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+57G>T ENSP00000494175.1:n.92+57G>T
ENST00000335295.4:c.92+57G>T MANE Select ENSP00000333994.3:n.92+57G>T
ENST00000380315.2:c.92+57G>T ENSP00000369671.2:n.92+57G>T
ENST00000485743.1:n.143+57G>T
ENST00000633227.1:c.77-74G>T ENSP00000488004.1:n.77-74G>T
NM_000518.4:c.92+57G>T NP_000509.1:n.92+57G>T
NM_000518.5:c.92+57G>T MANE Select NP_000509.1:n.92+57G>T