Canonical Allele Identifier: CA2686023277
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6878019-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878019C>G , CM000670.2:g.6878019C>G GRCh38
NC_000008.10:g.6735541C>G , CM000670.1:g.6735541C>G GRCh37
NC_000008.9:g.6722951C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-162G>C ENSP00000297439.3:n.-162G>C