Canonical Allele Identifier: CA677767706
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1242958243
gnomAD v3: 11-5249859-T-C
gnomAD v4: 11-5249859-T-C
MyVariant Identifiers: chr11:g.5271089T>C (hg19) chr11:g.5249859T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249859T>C , CM000673.2:g.5249859T>C GRCh38
NC_000011.9:g.5271089T>C , CM000673.1:g.5271089T>C GRCh37
NC_000011.8:g.5227665T>C NCBI36
NG_000007.3:g.47757A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1372A>G ENSP00000495346.1:n.316-1372A>G
ENST00000647543.1:c.379-1372A>G ENSP00000496470.1:n.379-1372A>G
ENST00000330597.3:c.-55A>G (HBG1) ENSP00000327431.3:n.-55A>G
ENST00000620888.4:c.316-1372A>G (HBG2) ENSP00000479637.1:n.316-1372A>G
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