Canonical Allele Identifier: CA597217430
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 879417
ClinVar RCV Id: RCV001106914 RCV001107577 RCV001107578 RCV001107579
dbSNP Id: rs1348310843
gnomAD v2: 11-5246810-G-T
gnomAD v4: 11-5225580-G-T
MyVariant Identifiers: chr11:g.5246810G>T (hg19) chr11:g.5225580G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225580G>T , CM000673.2:g.5225580G>T GRCh38
NC_000011.9:g.5246810G>T , CM000673.1:g.5246810G>T GRCh37
NC_000011.8:g.5203386G>T NCBI36
NG_000007.3:g.72036C>A
NG_059281.1:g.6492C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*18C>A ENSP00000494175.1:n.*18C>A
ENST00000335295.4:c.*18C>A MANE Select ENSP00000333994.3:n.*18C>A
ENST00000633227.1:c.*278C>A ENSP00000488004.1:n.*278C>A
NM_000518.4:c.*18C>A NP_000509.1:n.*18C>A
NM_000518.5:c.*18C>A MANE Select NP_000509.1:n.*18C>A
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