Canonical Allele Identifier: CA1761188538
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877727C= , CM000670.2:g.6877727C= GRCh38
NC_000008.10:g.6735249C= , CM000670.1:g.6735249C= GRCh37
NC_000008.9:g.6722659C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+70G= MANE Select ENSP00000297439.3:n.61+70G=
ENST00000297439.3:c.61+70G= ENSP00000297439.3:n.61+70G=
NM_005218.3:c.61+70G= NP_005209.1:n.61+70G=
NM_005218.4:c.61+70G= MANE Select NP_005209.1:n.61+70G=