Canonical Allele Identifier: CA677551602
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2501084
ClinVar RCV Id: RCV003226681 RCV003477068
dbSNP Id: rs1316817965
gnomAD v3: 11-5225541-G-C
gnomAD v4: 11-5225541-G-C
MyVariant Identifiers: chr11:g.5246771G>C (hg19) chr11:g.5225541G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225541G>C , CM000673.2:g.5225541G>C GRCh38
NC_000011.9:g.5246771G>C , CM000673.1:g.5246771G>C GRCh37
NC_000011.8:g.5203347G>C NCBI36
NG_000007.3:g.72075C>G
NG_059281.1:g.6531C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*57C>G ENSP00000494175.1:n.*57C>G
ENST00000335295.4:c.*57C>G MANE Select ENSP00000333994.3:n.*57C>G
ENST00000633227.1:c.*317C>G ENSP00000488004.1:n.*317C>G
NM_000518.4:c.*57C>G NP_000509.1:n.*57C>G
NM_000518.5:c.*57C>G MANE Select NP_000509.1:n.*57C>G
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