Canonical Allele Identifier: CA2686022874
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870577-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870577T>C , CM000670.2:g.6870577T>C GRCh38
NC_000008.10:g.6728099T>C , CM000670.1:g.6728099T>C GRCh37
NC_000008.9:g.6715509T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*104A>G ENSP00000297439.3:n.*104A>G
NM_005218.3:c.*104A>G NP_005209.1:n.*104A>G