Canonical Allele Identifier: CA171472836
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs757743439
gnomAD v2: 8-6728126-G-A
gnomAD v3: 8-6870604-G-A
gnomAD v4: 8-6870604-G-A

Genomic Alleles

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

Transcript Alleles

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