Canonical Allele Identifier: CA171486574
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs541272941
gnomAD v3: 8-6877984-A-G
gnomAD v4: 8-6877984-A-G
MyVariant Identifiers: chr8:g.6735506A>G (hg19) chr8:g.6877984A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877984A>G , CM000670.2:g.6877984A>G GRCh38
NC_000008.10:g.6735506A>G , CM000670.1:g.6735506A>G GRCh37
NC_000008.9:g.6722916A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.-127T>C ENSP00000297439.3:n.-127T>C
NM_005218.3:c.-127T>C NP_005209.1:n.-127T>C
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