Canonical Allele Identifier: CA2579088556
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877917-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877917G>T , CM000670.2:g.6877917G>T GRCh38
NC_000008.10:g.6735439G>T , CM000670.1:g.6735439G>T GRCh37
NC_000008.9:g.6722849G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-60C>A MANE Select ENSP00000297439.3:n.-60C>A
ENST00000297439.3:c.-60C>A ENSP00000297439.3:n.-60C>A
NM_005218.3:c.-60C>A NP_005209.1:n.-60C>A
NM_005218.4:c.-60C>A MANE Select NP_005209.1:n.-60C>A
Search 100 bp 5'
Search 100 bp 3'