Canonical Allele Identifier: CA2686023242
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877970-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877970T>A , CM000670.2:g.6877970T>A GRCh38
NC_000008.10:g.6735492T>A , CM000670.1:g.6735492T>A GRCh37
NC_000008.9:g.6722902T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-113A>T ENSP00000297439.3:n.-113A>T
NM_005218.3:c.-113A>T NP_005209.1:n.-113A>T