Canonical Allele Identifier: CA2686022888
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870596-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870596C>A , CM000670.2:g.6870596C>A GRCh38
NC_000008.10:g.6728118C>A , CM000670.1:g.6728118C>A GRCh37
NC_000008.9:g.6715528C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*85G>T MANE Select ENSP00000297439.3:n.*85G>T
ENST00000297439.3:c.*85G>T ENSP00000297439.3:n.*85G>T
NM_005218.3:c.*85G>T NP_005209.1:n.*85G>T
NM_005218.4:c.*85G>T MANE Select NP_005209.1:n.*85G>T
Search 100 bp 5'
Search 100 bp 3'