Canonical Allele Identifier: CA854609369
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1475900642
gnomAD v4: 8-6877919-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877919C>A , CM000670.2:g.6877919C>A GRCh38
NC_000008.10:g.6735441C>A , CM000670.1:g.6735441C>A GRCh37
NC_000008.9:g.6722851C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-62G>T MANE Select ENSP00000297439.3:n.-62G>T
ENST00000297439.3:c.-62G>T ENSP00000297439.3:n.-62G>T
NM_005218.3:c.-62G>T NP_005209.1:n.-62G>T
NM_005218.4:c.-62G>T MANE Select NP_005209.1:n.-62G>T