Canonical Allele Identifier: CA1761188542
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs944168295
gnomAD v4: 8-6877729-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877729G>T , CM000670.2:g.6877729G>T GRCh38
NC_000008.10:g.6735251G>T , CM000670.1:g.6735251G>T GRCh37
NC_000008.9:g.6722661G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+68C>A MANE Select ENSP00000297439.3:n.61+68C>A
ENST00000297439.3:c.61+68C>A ENSP00000297439.3:n.61+68C>A
NM_005218.3:c.61+68C>A NP_005209.1:n.61+68C>A
NM_005218.4:c.61+68C>A MANE Select NP_005209.1:n.61+68C>A
Search 100 bp 5'
Search 100 bp 3'