Canonical Allele Identifier: CA2579088542
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877744-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877744C>G , CM000670.2:g.6877744C>G GRCh38
NC_000008.10:g.6735266C>G , CM000670.1:g.6735266C>G GRCh37
NC_000008.9:g.6722676C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+53G>C MANE Select ENSP00000297439.3:n.61+53G>C
ENST00000297439.3:c.61+53G>C ENSP00000297439.3:n.61+53G>C
NM_005218.3:c.61+53G>C NP_005209.1:n.61+53G>C
NM_005218.4:c.61+53G>C MANE Select NP_005209.1:n.61+53G>C
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