Canonical Allele Identifier: CA2686022873
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870576-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870576T>G , CM000670.2:g.6870576T>G GRCh38
NC_000008.10:g.6728098T>G , CM000670.1:g.6728098T>G GRCh37
NC_000008.9:g.6715508T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*105A>C ENSP00000297439.3:n.*105A>C
NM_005218.3:c.*105A>C NP_005209.1:n.*105A>C