Canonical Allele Identifier: CA2499221080
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1127713
ClinVar RCV Id: RCV001460224
dbSNP Id: rs556727592
gnomAD v4: 11-5226839-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226839G>T , CM000673.2:g.5226839G>T GRCh38
NC_000011.9:g.5248069G>T , CM000673.1:g.5248069G>T GRCh37
NC_000011.8:g.5204645G>T NCBI36
NG_000007.3:g.70777C>A
NG_059281.1:g.5233C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-40C>A ENSP00000494175.1:n.93-40C>A
ENST00000335295.4:c.93-40C>A MANE Select ENSP00000333994.3:n.93-40C>A
ENST00000380315.2:c.93-40C>A ENSP00000369671.2:n.93-40C>A
ENST00000485743.1:n.144-40C>A
ENST00000633227.1:c.77-40C>A ENSP00000488004.1:n.77-40C>A
NM_000518.4:c.93-40C>A NP_000509.1:n.93-40C>A
NM_000518.5:c.93-40C>A MANE Select NP_000509.1:n.93-40C>A
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