Canonical Allele Identifier: CA171486494
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs191291329
gnomAD v3: 8-6877938-C-A
gnomAD v4: 8-6877938-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877938C>A , CM000670.2:g.6877938C>A GRCh38
NC_000008.10:g.6735460C>A , CM000670.1:g.6735460C>A GRCh37
NC_000008.9:g.6722870C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.-81G>T ENSP00000297439.3:n.-81G>T
NM_005218.3:c.-81G>T NP_005209.1:n.-81G>T