Canonical Allele Identifier: CA171486478
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs918277501

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877932G>C , CM000670.2:g.6877932G>C GRCh38
NC_000008.10:g.6735454G>C , CM000670.1:g.6735454G>C GRCh37
NC_000008.9:g.6722864G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-75C>G MANE Select ENSP00000297439.3:n.-75C>G
ENST00000297439.3:c.-75C>G ENSP00000297439.3:n.-75C>G
NM_005218.3:c.-75C>G NP_005209.1:n.-75C>G
NM_005218.4:c.-75C>G MANE Select NP_005209.1:n.-75C>G