Canonical Allele Identifier: CA5839740
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439144
dbSNP Id: rs769583496
gnomAD v2: 11-5247848-G-A
gnomAD v3: 11-5226618-G-A
gnomAD v4: 11-5226618-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226618G>A , CM000673.2:g.5226618G>A GRCh38
NC_000011.9:g.5247848G>A , CM000673.1:g.5247848G>A GRCh37
NC_000011.8:g.5204424G>A NCBI36
NG_000007.3:g.70998C>T
NG_059281.1:g.5454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.274C>T ENSP00000494175.1:p.Leu92=
ENST00000335295.4:c.274C>T MANE Select ENSP00000333994.3:p.Leu92=
ENST00000475226.1:n.206C>T
ENST00000485743.1:n.325C>T
ENST00000633227.1:c.*90C>T ENSP00000488004.1:n.*90C>T
NM_000518.4:c.274C>T NP_000509.1:p.Leu92=
NM_000518.5:c.274C>T MANE Select NP_000509.1:p.Leu92=