Canonical Allele Identifier: CA171486123
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs759166464
gnomAD v4: 8-6877783-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877783G>C , CM000670.2:g.6877783G>C GRCh38
NC_000008.10:g.6735305G>C , CM000670.1:g.6735305G>C GRCh37
NC_000008.9:g.6722715G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+14C>G MANE Select ENSP00000297439.3:n.61+14C>G
ENST00000297439.3:c.61+14C>G ENSP00000297439.3:n.61+14C>G
NM_005218.3:c.61+14C>G NP_005209.1:n.61+14C>G
NM_005218.4:c.61+14C>G MANE Select NP_005209.1:n.61+14C>G