Canonical Allele Identifier: CA677552833
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1124758
ClinVar RCV Id: RCV001456236
dbSNP Id: rs1194340747
gnomAD v4: 11-5226163-T-G
MyVariant Identifiers: chr11:g.5247393T>G (hg19) chr11:g.5226163T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226163T>G , CM000673.2:g.5226163T>G GRCh38
NC_000011.9:g.5247393T>G , CM000673.1:g.5247393T>G GRCh37
NC_000011.8:g.5203969T>G NCBI36
NG_000007.3:g.71453A>C
NG_059281.1:g.5909A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+414A>C ENSP00000494175.1:n.315+414A>C
ENST00000335295.4:c.315+414A>C MANE Select ENSP00000333994.3:n.315+414A>C
ENST00000475226.1:n.247+414A>C
ENST00000633227.1:c.*131+414A>C ENSP00000488004.1:n.*131+414A>C
NM_000518.4:c.315+414A>C NP_000509.1:n.315+414A>C
NM_000518.5:c.315+414A>C MANE Select NP_000509.1:n.315+414A>C
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