Canonical Allele Identifier: CA2686023127
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877750-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877750G>A , CM000670.2:g.6877750G>A GRCh38
NC_000008.10:g.6735272G>A , CM000670.1:g.6735272G>A GRCh37
NC_000008.9:g.6722682G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+47C>T MANE Select ENSP00000297439.3:n.61+47C>T
ENST00000297439.3:c.61+47C>T ENSP00000297439.3:n.61+47C>T
NM_005218.3:c.61+47C>T NP_005209.1:n.61+47C>T
NM_005218.4:c.61+47C>T MANE Select NP_005209.1:n.61+47C>T
Search 100 bp 5'
Search 100 bp 3'