Canonical Allele Identifier: CA2499221007
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1154176
ClinVar RCV Id: RCV001496065
dbSNP Id: rs1415697390
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225873T>A , CM000673.2:g.5225873T>A GRCh38
NC_000011.9:g.5247103T>A , CM000673.1:g.5247103T>A GRCh37
NC_000011.8:g.5203679T>A NCBI36
NG_000007.3:g.71743A>T
NG_059281.1:g.6199A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-147A>T ENSP00000494175.1:n.316-147A>T
ENST00000335295.4:c.316-147A>T MANE Select ENSP00000333994.3:n.316-147A>T
ENST00000475226.1:n.248-147A>T
ENST00000633227.1:c.*132-147A>T ENSP00000488004.1:n.*132-147A>T
NM_000518.4:c.316-147A>T NP_000509.1:n.316-147A>T
NM_000518.5:c.316-147A>T MANE Select NP_000509.1:n.316-147A>T
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