Canonical Allele Identifier: CA2686022893
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870605-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870605C>A , CM000670.2:g.6870605C>A GRCh38
NC_000008.10:g.6728127C>A , CM000670.1:g.6728127C>A GRCh37
NC_000008.9:g.6715537C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*76G>T MANE Select ENSP00000297439.3:n.*76G>T
ENST00000297439.3:c.*76G>T ENSP00000297439.3:n.*76G>T
NM_005218.3:c.*76G>T NP_005209.1:n.*76G>T
NM_005218.4:c.*76G>T MANE Select NP_005209.1:n.*76G>T