Canonical Allele Identifier: CA2686023266
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6878003-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878003A>G , CM000670.2:g.6878003A>G GRCh38
NC_000008.10:g.6735525A>G , CM000670.1:g.6735525A>G GRCh37
NC_000008.9:g.6722935A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-146T>C ENSP00000297439.3:n.-146T>C
NM_005218.3:c.-146T>C NP_005209.1:n.-146T>C