Canonical Allele Identifier: CA2523782043
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870588-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870588G>C , CM000670.2:g.6870588G>C GRCh38
NC_000008.10:g.6728110G>C , CM000670.1:g.6728110G>C GRCh37
NC_000008.9:g.6715520G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*93C>G ENSP00000297439.3:n.*93C>G
NM_005218.3:c.*93C>G NP_005209.1:n.*93C>G