Canonical Allele Identifier: CA5839734
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1546580
ClinVar RCV Id: RCV002170896
dbSNP Id: rs778382385
ExAC: 11:5247796 C / G
gnomAD v2: 11-5247796-C-G
gnomAD v3: 11-5226566-C-G
gnomAD v4: 11-5226566-C-G
MyVariant Identifiers: chr11:g.5247796C>G (hg19) chr11:g.5226566C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226566C>G , CM000673.2:g.5226566C>G GRCh38
NC_000011.9:g.5247796C>G , CM000673.1:g.5247796C>G GRCh37
NC_000011.8:g.5204372C>G NCBI36
NG_000007.3:g.71050G>C
NG_059281.1:g.5506G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+11G>C ENSP00000494175.1:n.315+11G>C
ENST00000335295.4:c.315+11G>C MANE Select ENSP00000333994.3:n.315+11G>C
ENST00000475226.1:n.247+11G>C
ENST00000485743.1:n.377G>C
ENST00000633227.1:c.*131+11G>C ENSP00000488004.1:n.*131+11G>C
NM_000518.4:c.315+11G>C NP_000509.1:n.315+11G>C
NM_000518.5:c.315+11G>C MANE Select NP_000509.1:n.315+11G>C
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