Canonical Allele Identifier: CA597436108
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2790355
ClinVar RCV Id: RCV003669824
dbSNP Id: rs753003330
gnomAD v2: 11-5247586-C-A
gnomAD v3: 11-5226356-C-A
gnomAD v4: 11-5226356-C-A
MyVariant Identifiers: chr11:g.5247586C>A (hg19) chr11:g.5226356C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226356C>A , CM000673.2:g.5226356C>A GRCh38
NC_000011.9:g.5247586C>A , CM000673.1:g.5247586C>A GRCh37
NC_000011.8:g.5204162C>A NCBI36
NG_000007.3:g.71260G>T
NG_059281.1:g.5716G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+221G>T ENSP00000494175.1:n.315+221G>T
ENST00000335295.4:c.315+221G>T MANE Select ENSP00000333994.3:n.315+221G>T
ENST00000475226.1:n.247+221G>T
ENST00000485743.1:n.587G>T
ENST00000633227.1:c.*131+221G>T ENSP00000488004.1:n.*131+221G>T
NM_000518.4:c.315+221G>T NP_000509.1:n.315+221G>T
NM_000518.5:c.315+221G>T MANE Select NP_000509.1:n.315+221G>T
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