Canonical Allele Identifier: CA2686023259
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877994-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877994C>A , CM000670.2:g.6877994C>A GRCh38
NC_000008.10:g.6735516C>A , CM000670.1:g.6735516C>A GRCh37
NC_000008.9:g.6722926C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-137G>T ENSP00000297439.3:n.-137G>T
NM_005218.3:c.-137G>T NP_005209.1:n.-137G>T