Canonical Allele Identifier: CA379273807
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2577314
ClinVar RCV Id: RCV003324391
dbSNP Id: rs33952147
gnomAD v2: 11-5247863-C-A
gnomAD v3: 11-5226633-C-A
gnomAD v4: 11-5226633-C-A
MyVariant Identifiers: chr11:g.5247863C>A (hg19) chr11:g.5226633C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226633C>A , CM000673.2:g.5226633C>A GRCh38
NC_000011.9:g.5247863C>A , CM000673.1:g.5247863C>A GRCh37
NC_000011.8:g.5204439C>A NCBI36
NG_000007.3:g.70983G>T
NG_059281.1:g.5439G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.259G>T ENSP00000494175.1:p.Ala87Ser
ENST00000335295.4:c.259G>T MANE Select ENSP00000333994.3:p.Ala87Ser
ENST00000380315.2:c.259G>T ENSP00000369671.2:p.Ala87Ser
ENST00000475226.1:n.191G>T
ENST00000485743.1:n.310G>T
ENST00000633227.1:c.*75G>T ENSP00000488004.1:n.*75G>T
NM_000518.4:c.259G>T NP_000509.1:p.Ala87Ser
NM_000518.5:c.259G>T MANE Select NP_000509.1:p.Ala87Ser
Search 100 bp 5'
Search 100 bp 3'