Canonical Allele Identifier: CA2686022895
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870607-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870607A>T , CM000670.2:g.6870607A>T GRCh38
NC_000008.10:g.6728129A>T , CM000670.1:g.6728129A>T GRCh37
NC_000008.9:g.6715539A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*74T>A MANE Select ENSP00000297439.3:n.*74T>A
ENST00000297439.3:c.*74T>A ENSP00000297439.3:n.*74T>A
NM_005218.3:c.*74T>A NP_005209.1:n.*74T>A
NM_005218.4:c.*74T>A MANE Select NP_005209.1:n.*74T>A
Search 100 bp 5'
Search 100 bp 3'