Canonical Allele Identifier: CA472638416
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1445215408
gnomAD v2: 11-5246897-T-C
gnomAD v4: 11-5225667-T-C
MyVariant Identifiers: chr11:g.5246897T>C (hg19) chr11:g.5225667T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225667T>C , CM000673.2:g.5225667T>C GRCh38
NC_000011.9:g.5246897T>C , CM000673.1:g.5246897T>C GRCh37
NC_000011.8:g.5203473T>C NCBI36
NG_000007.3:g.71949A>G
NG_059281.1:g.6405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.375A>G ENSP00000494175.1:p.Pro125=
ENST00000335295.4:c.375A>G MANE Select ENSP00000333994.3:p.Pro125=
ENST00000475226.1:n.307A>G
ENST00000633227.1:c.*191A>G ENSP00000488004.1:n.*191A>G
NM_000518.4:c.375A>G NP_000509.1:p.Pro125=
NM_000518.5:c.375A>G MANE Select NP_000509.1:p.Pro125=
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