Canonical Allele Identifier: CA658683678
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495985
ClinVar RCV Id: RCV000586372
dbSNP Id: rs1010004981
MyVariant Identifiers: chr11:g.5248274T>C (hg19) chr11:g.5227044T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227044T>C , CM000673.2:g.5227044T>C GRCh38
NC_000011.9:g.5248274T>C , CM000673.1:g.5248274T>C GRCh37
NC_000011.8:g.5204850T>C NCBI36
NG_000007.3:g.70572A>G
NG_059281.1:g.5028A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-23A>G ENSP00000494175.1:n.-23A>G
ENST00000335295.4:c.-23A>G MANE Select ENSP00000333994.3:n.-23A>G
ENST00000380315.2:c.-18-5A>G ENSP00000369671.2:n.-18-5A>G
ENST00000485743.1:n.29A>G
ENST00000633227.1:c.-23A>G ENSP00000488004.1:n.-23A>G
NM_000518.4:c.-23A>G NP_000509.1:n.-23A>G
NM_000518.5:c.-23A>G MANE Select NP_000509.1:n.-23A>G
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