Canonical Allele Identifier: CA2686022891
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870602-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870602A>G , CM000670.2:g.6870602A>G GRCh38
NC_000008.10:g.6728124A>G , CM000670.1:g.6728124A>G GRCh37
NC_000008.9:g.6715534A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*79T>C MANE Select ENSP00000297439.3:n.*79T>C
ENST00000297439.3:c.*79T>C ENSP00000297439.3:n.*79T>C
NM_005218.3:c.*79T>C NP_005209.1:n.*79T>C
NM_005218.4:c.*79T>C MANE Select NP_005209.1:n.*79T>C