Canonical Allele Identifier: CA2686022880
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870582-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870582C>A , CM000670.2:g.6870582C>A GRCh38
NC_000008.10:g.6728104C>A , CM000670.1:g.6728104C>A GRCh37
NC_000008.9:g.6715514C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*99G>T ENSP00000297439.3:n.*99G>T
NM_005218.3:c.*99G>T NP_005209.1:n.*99G>T