Canonical Allele Identifier: CA597436139
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1301330
ClinVar RCV Id: RCV001733372 RCV002539826
dbSNP Id: rs1319747765
gnomAD v2: 11-5248259-G-C
gnomAD v4: 11-5227029-G-C
MyVariant Identifiers: chr11:g.5248259G>C (hg19) chr11:g.5227029G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227029G>C , CM000673.2:g.5227029G>C GRCh38
NC_000011.9:g.5248259G>C , CM000673.1:g.5248259G>C GRCh37
NC_000011.8:g.5204835G>C NCBI36
NG_000007.3:g.70587C>G
NG_059281.1:g.5043C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-8C>G ENSP00000494175.1:n.-8C>G
ENST00000335295.4:c.-8C>G MANE Select ENSP00000333994.3:n.-8C>G
ENST00000380315.2:c.-8C>G ENSP00000369671.2:n.-8C>G
ENST00000485743.1:n.44C>G
ENST00000633227.1:c.-8C>G ENSP00000488004.1:n.-8C>G
NM_000518.4:c.-8C>G NP_000509.1:n.-8C>G
NM_000518.5:c.-8C>G MANE Select NP_000509.1:n.-8C>G
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