Canonical Allele Identifier: CA854609422
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1337042860
gnomAD v3: 8-6877949-G-C
gnomAD v4: 8-6877949-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877949G>C , CM000670.2:g.6877949G>C GRCh38
NC_000008.10:g.6735471G>C , CM000670.1:g.6735471G>C GRCh37
NC_000008.9:g.6722881G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.-92C>G ENSP00000297439.3:n.-92C>G
NM_005218.3:c.-92C>G NP_005209.1:n.-92C>G