Canonical Allele Identifier: CA2686023215
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877929-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877929A>G , CM000670.2:g.6877929A>G GRCh38
NC_000008.10:g.6735451A>G , CM000670.1:g.6735451A>G GRCh37
NC_000008.9:g.6722861A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-72T>C MANE Select ENSP00000297439.3:n.-72T>C
ENST00000297439.3:c.-72T>C ENSP00000297439.3:n.-72T>C
NM_005218.3:c.-72T>C NP_005209.1:n.-72T>C
NM_005218.4:c.-72T>C MANE Select NP_005209.1:n.-72T>C
Search 100 bp 5'
Search 100 bp 3'