Canonical Allele Identifier: CA217113059
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1143356
ClinVar RCV Id: RCV001481521
dbSNP Id: rs536670489
gnomAD v3: 11-5226084-A-T
gnomAD v4: 11-5226084-A-T
MyVariant Identifiers: chr11:g.5247314A>T (hg19) chr11:g.5226084A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226084A>T , CM000673.2:g.5226084A>T GRCh38
NC_000011.9:g.5247314A>T , CM000673.1:g.5247314A>T GRCh37
NC_000011.8:g.5203890A>T NCBI36
NG_000007.3:g.71532T>A
NG_059281.1:g.5988T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-358T>A ENSP00000494175.1:n.316-358T>A
ENST00000335295.4:c.316-358T>A MANE Select ENSP00000333994.3:n.316-358T>A
ENST00000475226.1:n.248-358T>A
ENST00000633227.1:c.*132-358T>A ENSP00000488004.1:n.*132-358T>A
NM_000518.4:c.316-358T>A NP_000509.1:n.316-358T>A
NM_000518.5:c.316-358T>A MANE Select NP_000509.1:n.316-358T>A
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