Canonical Allele Identifier: CA658683680
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 496004
ClinVar RCV Id: RCV000586215
dbSNP Id: rs1554918265
gnomAD v4: 11-5227094-G-A
MyVariant Identifiers: chr11:g.5248324G>A (hg19) chr11:g.5227094G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227094G>A , CM000673.2:g.5227094G>A GRCh38
NC_000011.9:g.5248324G>A , CM000673.1:g.5248324G>A GRCh37
NC_000011.8:g.5204900G>A NCBI36
NG_000007.3:g.70522C>T
NG_059281.1:g.4978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-73C>T ENSP00000494175.1:n.-73C>T
ENST00000380315.2:c.-18-55C>T ENSP00000369671.2:n.-18-55C>T
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