Canonical Allele Identifier: CA171486631
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs563417633
gnomAD v2: 8-6735526-G-A
gnomAD v3: 8-6878004-G-A
gnomAD v4: 8-6878004-G-A
MyVariant Identifiers: chr8:g.6735526G>A (hg19) chr8:g.6878004G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6878004G>A , CM000670.2:g.6878004G>A GRCh38
NC_000008.10:g.6735526G>A , CM000670.1:g.6735526G>A GRCh37
NC_000008.9:g.6722936G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.3:c.-147C>T ENSP00000297439.3:n.-147C>T
NM_005218.3:c.-147C>T NP_005209.1:n.-147C>T
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