Canonical Allele Identifier: CA10587130
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 256348
ClinVar RCV Id: RCV000253363 RCV003105837
dbSNP Id: rs35456885
gnomAD v3: 11-5226814-A-G
gnomAD v4: 11-5226814-A-G
MyVariant Identifiers: chr11:g.5248044A>G (hg19) chr11:g.5226814A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226814A>G , CM000673.2:g.5226814A>G GRCh38
NC_000011.9:g.5248044A>G , CM000673.1:g.5248044A>G GRCh37
NC_000011.8:g.5204620A>G NCBI36
NG_000007.3:g.70802T>C
NG_059281.1:g.5258T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-15T>C ENSP00000494175.1:n.93-15T>C
ENST00000335295.4:c.93-15T>C MANE Select ENSP00000333994.3:n.93-15T>C
ENST00000380315.2:c.93-15T>C ENSP00000369671.2:n.93-15T>C
ENST00000475226.1:n.10T>C
ENST00000485743.1:n.144-15T>C
ENST00000633227.1:c.77-15T>C ENSP00000488004.1:n.77-15T>C
NM_000518.4:c.93-15T>C NP_000509.1:n.93-15T>C
NM_000518.5:c.93-15T>C MANE Select NP_000509.1:n.93-15T>C
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