Canonical Allele Identifier: CA370230847
Gene: DEFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.6735335C>A (hg19) chr8:g.6877813C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877813C>A , CM000670.2:g.6877813C>A GRCh38
NC_000008.10:g.6735335C>A , CM000670.1:g.6735335C>A GRCh37
NC_000008.9:g.6722745C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.45G>T MANE Select ENSP00000297439.3:p.Leu15Phe
ENST00000297439.3:c.45G>T ENSP00000297439.3:p.Leu15Phe
NM_005218.3:c.45G>T NP_005209.1:p.Leu15Phe
NM_005218.4:c.45G>T MANE Select NP_005209.1:p.Leu15Phe
Search 100 bp 5'
Search 100 bp 3'