Canonical Allele Identifier: CA2686023141
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877769-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877769G>A , CM000670.2:g.6877769G>A GRCh38
NC_000008.10:g.6735291G>A , CM000670.1:g.6735291G>A GRCh37
NC_000008.9:g.6722701G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+28C>T MANE Select ENSP00000297439.3:n.61+28C>T
ENST00000297439.3:c.61+28C>T ENSP00000297439.3:n.61+28C>T
NM_005218.3:c.61+28C>T NP_005209.1:n.61+28C>T
NM_005218.4:c.61+28C>T MANE Select NP_005209.1:n.61+28C>T