Canonical Allele Identifier: CA171486038
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs944168295
gnomAD v3: 8-6877729-G-A
gnomAD v4: 8-6877729-G-A
MyVariant Identifiers: chr8:g.6735251G>A (hg19) chr8:g.6877729G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877729G>A , CM000670.2:g.6877729G>A GRCh38
NC_000008.10:g.6735251G>A , CM000670.1:g.6735251G>A GRCh37
NC_000008.9:g.6722661G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+68C>T MANE Select ENSP00000297439.3:n.61+68C>T
ENST00000297439.3:c.61+68C>T ENSP00000297439.3:n.61+68C>T
NM_005218.3:c.61+68C>T NP_005209.1:n.61+68C>T
NM_005218.4:c.61+68C>T MANE Select NP_005209.1:n.61+68C>T
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