Canonical Allele Identifier: CA597436121
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 929230
ClinVar RCV Id: RCV001194399 RCV001408622
dbSNP Id: rs1277597344
gnomAD v2: 11-5247798-T-C
gnomAD v4: 11-5226568-T-C
MyVariant Identifiers: chr11:g.5247798T>C (hg19) chr11:g.5226568T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226568T>C , CM000673.2:g.5226568T>C GRCh38
NC_000011.9:g.5247798T>C , CM000673.1:g.5247798T>C GRCh37
NC_000011.8:g.5204374T>C NCBI36
NG_000007.3:g.71048A>G
NG_059281.1:g.5504A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+9A>G ENSP00000494175.1:n.315+9A>G
ENST00000335295.4:c.315+9A>G MANE Select ENSP00000333994.3:n.315+9A>G
ENST00000475226.1:n.247+9A>G
ENST00000485743.1:n.375A>G
ENST00000633227.1:c.*131+9A>G ENSP00000488004.1:n.*131+9A>G
NM_000518.4:c.315+9A>G NP_000509.1:n.315+9A>G
NM_000518.5:c.315+9A>G MANE Select NP_000509.1:n.315+9A>G
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