Canonical Allele Identifier: CA217113536
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 801186
ClinVar RCV Id: RCV000985742
dbSNP Id: rs34515413
MyVariant Identifiers: chr11:g.5247828G>C (hg19) chr11:g.5226598G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226598G>C , CM000673.2:g.5226598G>C GRCh38
NC_000011.9:g.5247828G>C , CM000673.1:g.5247828G>C GRCh37
NC_000011.8:g.5204404G>C NCBI36
NG_000007.3:g.71018C>G
NG_059281.1:g.5474C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.294C>G ENSP00000494175.1:p.His98Gln
ENST00000335295.4:c.294C>G MANE Select ENSP00000333994.3:p.His98Gln
ENST00000475226.1:n.226C>G
ENST00000485743.1:n.345C>G
ENST00000633227.1:c.*110C>G ENSP00000488004.1:n.*110C>G
NM_000518.4:c.294C>G NP_000509.1:p.His98Gln
NM_000518.5:c.294C>G MANE Select NP_000509.1:p.His98Gln
Search 100 bp 5'
Search 100 bp 3'