Canonical Allele Identifier: CA217112100
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 811372
ClinVar RCV Id: RCV001001186
dbSNP Id: rs770911771
gnomAD v3: 11-5225501-C-G
gnomAD v4: 11-5225501-C-G
MyVariant Identifiers: chr11:g.5246731C>G (hg19) chr11:g.5225501C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225501C>G , CM000673.2:g.5225501C>G GRCh38
NC_000011.9:g.5246731C>G , CM000673.1:g.5246731C>G GRCh37
NC_000011.8:g.5203307C>G NCBI36
NG_000007.3:g.72115G>C
NG_059281.1:g.6571G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*97G>C ENSP00000494175.1:n.*97G>C
ENST00000335295.4:c.*97G>C MANE Select ENSP00000333994.3:n.*97G>C
ENST00000633227.1:c.*357G>C ENSP00000488004.1:n.*357G>C
NM_000518.4:c.*97G>C NP_000509.1:n.*97G>C
NM_000518.5:c.*97G>C MANE Select NP_000509.1:n.*97G>C
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