Canonical Allele Identifier: CA2686023254
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877986-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877986C>G , CM000670.2:g.6877986C>G GRCh38
NC_000008.10:g.6735508C>G , CM000670.1:g.6735508C>G GRCh37
NC_000008.9:g.6722918C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-129G>C ENSP00000297439.3:n.-129G>C
NM_005218.3:c.-129G>C NP_005209.1:n.-129G>C
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