Canonical Allele Identifier: CA171472828
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs894121615
gnomAD v2: 8-6728125-A-T
gnomAD v3: 8-6870603-A-T
gnomAD v4: 8-6870603-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870603A>T , CM000670.2:g.6870603A>T GRCh38
NC_000008.10:g.6728125A>T , CM000670.1:g.6728125A>T GRCh37
NC_000008.9:g.6715535A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*78T>A MANE Select ENSP00000297439.3:n.*78T>A
ENST00000297439.3:c.*78T>A ENSP00000297439.3:n.*78T>A
NM_005218.3:c.*78T>A NP_005209.1:n.*78T>A
NM_005218.4:c.*78T>A MANE Select NP_005209.1:n.*78T>A