Canonical Allele Identifier: CA1761183415
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870604G= , CM000670.2:g.6870604G= GRCh38
NC_000008.10:g.6728126G= , CM000670.1:g.6728126G= GRCh37
NC_000008.9:g.6715536G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*77C= MANE Select ENSP00000297439.3:n.*77C=
ENST00000297439.3:c.*77C= ENSP00000297439.3:n.*77C=
NM_005218.3:c.*77C= NP_005209.1:n.*77C=
NM_005218.4:c.*77C= MANE Select NP_005209.1:n.*77C=