Canonical Allele Identifier: CA10635064
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 305000
ClinVar RCV Id: RCV000297689 RCV000337326 RCV000405739 RCV001105806
dbSNP Id: rs537944366
gnomAD v2: 11-5246772-T-A
gnomAD v3: 11-5225542-T-A
gnomAD v4: 11-5225542-T-A
MyVariant Identifiers: chr11:g.5246772T>A (hg19) chr11:g.5225542T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225542T>A , CM000673.2:g.5225542T>A GRCh38
NC_000011.9:g.5246772T>A , CM000673.1:g.5246772T>A GRCh37
NC_000011.8:g.5203348T>A NCBI36
NG_000007.3:g.72074A>T
NG_059281.1:g.6530A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*56A>T ENSP00000494175.1:n.*56A>T
ENST00000335295.4:c.*56A>T MANE Select ENSP00000333994.3:n.*56A>T
ENST00000633227.1:c.*316A>T ENSP00000488004.1:n.*316A>T
NM_000518.4:c.*56A>T NP_000509.1:n.*56A>T
NM_000518.5:c.*56A>T MANE Select NP_000509.1:n.*56A>T
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