Canonical Allele Identifier: CA2686023278
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6878022-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878022G>C , CM000670.2:g.6878022G>C GRCh38
NC_000008.10:g.6735544G>C , CM000670.1:g.6735544G>C GRCh37
NC_000008.9:g.6722954G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-165C>G ENSP00000297439.3:n.-165C>G