Canonical Allele Identifier: CA2580083901
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1698654
ClinVar RCV Id: RCV002271931
dbSNP Id: rs2133585664
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225481G>A , CM000673.2:g.5225481G>A GRCh38
NC_000011.9:g.5246711G>A , CM000673.1:g.5246711G>A GRCh37
NC_000011.8:g.5203287G>A NCBI36
NG_000007.3:g.72135C>T
NG_059281.1:g.6591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*117C>T ENSP00000494175.1:n.*117C>T
ENST00000335295.4:c.*117C>T MANE Select ENSP00000333994.3:n.*117C>T
ENST00000633227.1:c.*377C>T ENSP00000488004.1:n.*377C>T
NM_000518.4:c.*117C>T NP_000509.1:n.*117C>T
NM_000518.5:c.*117C>T MANE Select NP_000509.1:n.*117C>T
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