Canonical Allele Identifier: CA1761188753
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806599746
gnomAD v4: 8-6878019-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878019C>T , CM000670.2:g.6878019C>T GRCh38
NC_000008.10:g.6735541C>T , CM000670.1:g.6735541C>T GRCh37
NC_000008.9:g.6722951C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-162G>A ENSP00000297439.3:n.-162G>A