Canonical Allele Identifier: CA5839782
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 795005
ClinVar RCV Id: RCV000978303
dbSNP Id: rs777028217
ExAC: 11:5248047 G / A
gnomAD v2: 11-5248047-G-A
gnomAD v3: 11-5226817-G-A
gnomAD v4: 11-5226817-G-A
MyVariant Identifiers: chr11:g.5248047G>A (hg19) chr11:g.5226817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226817G>A , CM000673.2:g.5226817G>A GRCh38
NC_000011.9:g.5248047G>A , CM000673.1:g.5248047G>A GRCh37
NC_000011.8:g.5204623G>A NCBI36
NG_000007.3:g.70799C>T
NG_059281.1:g.5255C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-18C>T ENSP00000494175.1:n.93-18C>T
ENST00000335295.4:c.93-18C>T MANE Select ENSP00000333994.3:n.93-18C>T
ENST00000380315.2:c.93-18C>T ENSP00000369671.2:n.93-18C>T
ENST00000475226.1:n.7C>T
ENST00000485743.1:n.144-18C>T
ENST00000633227.1:c.77-18C>T ENSP00000488004.1:n.77-18C>T
NM_000518.4:c.93-18C>T NP_000509.1:n.93-18C>T
NM_000518.5:c.93-18C>T MANE Select NP_000509.1:n.93-18C>T
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