Canonical Allele Identifier: CA171486037
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs5743419
gnomAD v2: 8-6735250-C-T
gnomAD v3: 8-6877728-C-T
gnomAD v4: 8-6877728-C-T
MyVariant Identifiers: chr8:g.6735250C>T (hg19) chr8:g.6877728C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877728C>T , CM000670.2:g.6877728C>T GRCh38
NC_000008.10:g.6735250C>T , CM000670.1:g.6735250C>T GRCh37
NC_000008.9:g.6722660C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+69G>A MANE Select ENSP00000297439.3:n.61+69G>A
ENST00000297439.3:c.61+69G>A ENSP00000297439.3:n.61+69G>A
NM_005218.3:c.61+69G>A NP_005209.1:n.61+69G>A
NM_005218.4:c.61+69G>A MANE Select NP_005209.1:n.61+69G>A
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