Canonical Allele Identifier: CA2686023203
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877921-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877921G>A , CM000670.2:g.6877921G>A GRCh38
NC_000008.10:g.6735443G>A , CM000670.1:g.6735443G>A GRCh37
NC_000008.9:g.6722853G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-64C>T MANE Select ENSP00000297439.3:n.-64C>T
ENST00000297439.3:c.-64C>T ENSP00000297439.3:n.-64C>T
NM_005218.3:c.-64C>T NP_005209.1:n.-64C>T
NM_005218.4:c.-64C>T MANE Select NP_005209.1:n.-64C>T
Search 100 bp 5'
Search 100 bp 3'