Canonical Allele Identifier: CA2580083970
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2088018
ClinVar RCV Id: RCV003009857
gnomAD v4: 11-5226449-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226449C>G , CM000673.2:g.5226449C>G GRCh38
NC_000011.9:g.5247679C>G , CM000673.1:g.5247679C>G GRCh37
NC_000011.8:g.5204255C>G NCBI36
NG_000007.3:g.71167G>C
NG_059281.1:g.5623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+128G>C ENSP00000494175.1:n.315+128G>C
ENST00000335295.4:c.315+128G>C MANE Select ENSP00000333994.3:n.315+128G>C
ENST00000475226.1:n.247+128G>C
ENST00000485743.1:n.494G>C
ENST00000633227.1:c.*131+128G>C ENSP00000488004.1:n.*131+128G>C
NM_000518.4:c.315+128G>C NP_000509.1:n.315+128G>C
NM_000518.5:c.315+128G>C MANE Select NP_000509.1:n.315+128G>C
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