Canonical Allele Identifier: CA854600458
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1399507874
gnomAD v3: 8-6870600-A-T
gnomAD v4: 8-6870600-A-T
MyVariant Identifiers: chr8:g.6728122A>T (hg19) chr8:g.6870600A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870600A>T , CM000670.2:g.6870600A>T GRCh38
NC_000008.10:g.6728122A>T , CM000670.1:g.6728122A>T GRCh37
NC_000008.9:g.6715532A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*81T>A MANE Select ENSP00000297439.3:n.*81T>A
ENST00000297439.3:c.*81T>A ENSP00000297439.3:n.*81T>A
NM_005218.3:c.*81T>A NP_005209.1:n.*81T>A
NM_005218.4:c.*81T>A MANE Select NP_005209.1:n.*81T>A
Search 100 bp 5'
Search 100 bp 3'