Canonical Allele Identifier: CA677538086
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34704828
gnomAD v3: 11-5227050-C-A
gnomAD v4: 11-5227050-C-A
MyVariant Identifiers: chr11:g.5248280C>A (hg19) chr11:g.5227050C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227050C>A , CM000673.2:g.5227050C>A GRCh38
NC_000011.9:g.5248280C>A , CM000673.1:g.5248280C>A GRCh37
NC_000011.8:g.5204856C>A NCBI36
NG_000007.3:g.70566G>T
NG_059281.1:g.5022G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-29G>T ENSP00000494175.1:n.-29G>T
ENST00000335295.4:c.-29G>T MANE Select ENSP00000333994.3:n.-29G>T
ENST00000380315.2:c.-18-11G>T ENSP00000369671.2:n.-18-11G>T
ENST00000485743.1:n.23G>T
ENST00000633227.1:c.-29G>T ENSP00000488004.1:n.-29G>T
NM_000518.4:c.-29G>T NP_000509.1:n.-29G>T
NM_000518.5:c.-29G>T MANE Select NP_000509.1:n.-29G>T
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