Canonical Allele Identifier: CA677767723
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1208628474
gnomAD v3: 11-5249860-G-A
gnomAD v4: 11-5249860-G-A
MyVariant Identifiers: chr11:g.5271090G>A (hg19) chr11:g.5249860G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249860G>A , CM000673.2:g.5249860G>A GRCh38
NC_000011.9:g.5271090G>A , CM000673.1:g.5271090G>A GRCh37
NC_000011.8:g.5227666G>A NCBI36
NG_000007.3:g.47756C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1373C>T ENSP00000495346.1:n.316-1373C>T
ENST00000647543.1:c.379-1373C>T ENSP00000496470.1:n.379-1373C>T
ENST00000330597.3:c.-56C>T (HBG1) ENSP00000327431.3:n.-56C>T
ENST00000620888.4:c.316-1373C>T (HBG2) ENSP00000479637.1:n.316-1373C>T
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