Canonical Allele Identifier: CA2686023263
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877999-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877999C>T , CM000670.2:g.6877999C>T GRCh38
NC_000008.10:g.6735521C>T , CM000670.1:g.6735521C>T GRCh37
NC_000008.9:g.6722931C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-142G>A ENSP00000297439.3:n.-142G>A
NM_005218.3:c.-142G>A NP_005209.1:n.-142G>A