Canonical Allele Identifier: CA459186229
Gene: DEFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.6735335C>T (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.45G>A MANE Select ENSP00000297439.3:p.Leu15=
ENST00000297439.3:c.45G>A ENSP00000297439.3:p.Leu15=
NM_005218.3:c.45G>A NP_005209.1:p.Leu15=
NM_005218.4:c.45G>A MANE Select NP_005209.1:p.Leu15=
Search 100 bp 5'
Search 100 bp 3'