Canonical Allele Identifier: CA370230787
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877796-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877796C>T , CM000670.2:g.6877796C>T GRCh38
NC_000008.10:g.6735318C>T , CM000670.1:g.6735318C>T GRCh37
NC_000008.9:g.6722728C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+1G>A MANE Select ENSP00000297439.3:n.61+1G>A
ENST00000297439.3:c.61+1G>A ENSP00000297439.3:n.61+1G>A
NM_005218.3:c.61+1G>A NP_005209.1:n.61+1G>A
NM_005218.4:c.61+1G>A MANE Select NP_005209.1:n.61+1G>A