Canonical Allele Identifier: CA370230811

Gene: DEFB1

Linked Data

• gnomAD v4: 8-6877804-C-A
• MyVariant Identifiers: chr8:g.6735326C>A (hg19) ; chr8:g.6877804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877804C>A , CM000670.2:g.6877804C>A	GRCh38
NC_000008.10:g.6735326C>A , CM000670.1:g.6735326C>A	GRCh37
NC_000008.9:g.6722736C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.54G>T MANE Select	ENSP00000297439.3:p.Met18Ile
ENST00000297439.3:c.54G>T	ENSP00000297439.3:p.Met18Ile
NM_005218.3:c.54G>T	NP_005209.1:p.Met18Ile
NM_005218.4:c.54G>T MANE Select	NP_005209.1:p.Met18Ile