Canonical Allele Identifier: CA854609363
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1167990029
gnomAD v3: 8-6877918-G-T
gnomAD v4: 8-6877918-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877918G>T , CM000670.2:g.6877918G>T GRCh38
NC_000008.10:g.6735440G>T , CM000670.1:g.6735440G>T GRCh37
NC_000008.9:g.6722850G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-61C>A MANE Select ENSP00000297439.3:n.-61C>A
ENST00000297439.3:c.-61C>A ENSP00000297439.3:n.-61C>A
NM_005218.3:c.-61C>A NP_005209.1:n.-61C>A
NM_005218.4:c.-61C>A MANE Select NP_005209.1:n.-61C>A