Canonical Allele Identifier: CA2686023044
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877655-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877655C>A , CM000670.2:g.6877655C>A GRCh38
NC_000008.10:g.6735177C>A , CM000670.1:g.6735177C>A GRCh37
NC_000008.9:g.6722587C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+142G>T MANE Select ENSP00000297439.3:n.61+142G>T
ENST00000297439.3:c.61+142G>T ENSP00000297439.3:n.61+142G>T
NM_005218.3:c.61+142G>T NP_005209.1:n.61+142G>T
NM_005218.4:c.61+142G>T MANE Select NP_005209.1:n.61+142G>T
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