Canonical Allele Identifier: CA677538209
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2506214
ClinVar RCV Id: RCV003236445 RCV003477070
dbSNP Id: rs1160543272
gnomAD v4: 11-5227104-C-T
MyVariant Identifiers: chr11:g.5248334C>T (hg19) chr11:g.5227104C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227104C>T , CM000673.2:g.5227104C>T GRCh38
NC_000011.9:g.5248334C>T , CM000673.1:g.5248334C>T GRCh37
NC_000011.8:g.5204910C>T NCBI36
NG_000007.3:g.70512G>A
NG_059281.1:g.4968G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-83G>A ENSP00000494175.1:n.-83G>A
ENST00000380315.2:c.-18-65G>A ENSP00000369671.2:n.-18-65G>A
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