Canonical Allele Identifier: CA2686023269
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6878011-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878011G>A , CM000670.2:g.6878011G>A GRCh38
NC_000008.10:g.6735533G>A , CM000670.1:g.6735533G>A GRCh37
NC_000008.9:g.6722943G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-154C>T ENSP00000297439.3:n.-154C>T