Canonical Allele Identifier: CA2579088555
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877905-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877905G>T , CM000670.2:g.6877905G>T GRCh38
NC_000008.10:g.6735427G>T , CM000670.1:g.6735427G>T GRCh37
NC_000008.9:g.6722837G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-48C>A MANE Select ENSP00000297439.3:n.-48C>A
ENST00000297439.3:c.-48C>A ENSP00000297439.3:n.-48C>A
NM_005218.3:c.-48C>A NP_005209.1:n.-48C>A
NM_005218.4:c.-48C>A MANE Select NP_005209.1:n.-48C>A
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