Canonical Allele Identifier: CA2686022892
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870604-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870604G>T , CM000670.2:g.6870604G>T GRCh38
NC_000008.10:g.6728126G>T , CM000670.1:g.6728126G>T GRCh37
NC_000008.9:g.6715536G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*77C>A MANE Select ENSP00000297439.3:n.*77C>A
ENST00000297439.3:c.*77C>A ENSP00000297439.3:n.*77C>A
NM_005218.3:c.*77C>A NP_005209.1:n.*77C>A
NM_005218.4:c.*77C>A MANE Select NP_005209.1:n.*77C>A