Canonical Allele Identifier: CA370230822

Gene: DEFB1

Linked Data

• gnomAD v4: 8-6877806-T-A
• MyVariant Identifiers: chr8:g.6735328T>A (hg19) ; chr8:g.6877806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877806T>A , CM000670.2:g.6877806T>A	GRCh38
NC_000008.10:g.6735328T>A , CM000670.1:g.6735328T>A	GRCh37
NC_000008.9:g.6722738T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.52A>T MANE Select	ENSP00000297439.3:p.Met18Leu
ENST00000297439.3:c.52A>T	ENSP00000297439.3:p.Met18Leu
NM_005218.3:c.52A>T	NP_005209.1:p.Met18Leu
NM_005218.4:c.52A>T MANE Select	NP_005209.1:p.Met18Leu