Canonical Allele Identifier: CA677538010
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 3233600
ClinVar RCV Id: RCV004526450
dbSNP Id: rs1337405246
gnomAD v3: 11-5227027-C-G
gnomAD v4: 11-5227027-C-G
MyVariant Identifiers: chr11:g.5248257C>G (hg19) chr11:g.5227027C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227027C>G , CM000673.2:g.5227027C>G GRCh38
NC_000011.9:g.5248257C>G , CM000673.1:g.5248257C>G GRCh37
NC_000011.8:g.5204833C>G NCBI36
NG_000007.3:g.70589G>C
NG_059281.1:g.5045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-6G>C ENSP00000494175.1:n.-6G>C
ENST00000335295.4:c.-6G>C MANE Select ENSP00000333994.3:n.-6G>C
ENST00000380315.2:c.-6G>C ENSP00000369671.2:n.-6G>C
ENST00000485743.1:n.46G>C
ENST00000633227.1:c.-6G>C ENSP00000488004.1:n.-6G>C
NM_000518.4:c.-6G>C NP_000509.1:n.-6G>C
NM_000518.5:c.-6G>C MANE Select NP_000509.1:n.-6G>C
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