Canonical Allele Identifier: CA2686023198
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877914-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877914G>A , CM000670.2:g.6877914G>A GRCh38
NC_000008.10:g.6735436G>A , CM000670.1:g.6735436G>A GRCh37
NC_000008.9:g.6722846G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-57C>T MANE Select ENSP00000297439.3:n.-57C>T
ENST00000297439.3:c.-57C>T ENSP00000297439.3:n.-57C>T
NM_005218.3:c.-57C>T NP_005209.1:n.-57C>T
NM_005218.4:c.-57C>T MANE Select NP_005209.1:n.-57C>T