Canonical Allele Identifier: CA2686022885
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870589-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870589A>C , CM000670.2:g.6870589A>C GRCh38
NC_000008.10:g.6728111A>C , CM000670.1:g.6728111A>C GRCh37
NC_000008.9:g.6715521A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*92T>G ENSP00000297439.3:n.*92T>G
NM_005218.3:c.*92T>G NP_005209.1:n.*92T>G