Canonical Allele Identifier: CA1761188651
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs11362

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877877C>G , CM000670.2:g.6877877C>G GRCh38
NC_000008.10:g.6735399C>G , CM000670.1:g.6735399C>G GRCh37
NC_000008.9:g.6722809C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-20G>C MANE Select ENSP00000297439.3:n.-20G>C
ENST00000297439.3:c.-20G>C ENSP00000297439.3:n.-20G>C
NM_005218.3:c.-20G>C NP_005209.1:n.-20G>C
NM_005218.4:c.-20G>C MANE Select NP_005209.1:n.-20G>C