Canonical Allele Identifier: CA2686023171
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877873-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877873A>C , CM000670.2:g.6877873A>C GRCh38
NC_000008.10:g.6735395A>C , CM000670.1:g.6735395A>C GRCh37
NC_000008.9:g.6722805A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-16T>G MANE Select ENSP00000297439.3:n.-16T>G
ENST00000297439.3:c.-16T>G ENSP00000297439.3:n.-16T>G
NM_005218.3:c.-16T>G NP_005209.1:n.-16T>G
NM_005218.4:c.-16T>G MANE Select NP_005209.1:n.-16T>G
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