Canonical Allele Identifier: CA370230814

Gene: DEFB1

Linked Data

• dbSNP Id: rs1291561428
• gnomAD v4: 8-6877804-C-T
• MyVariant Identifiers: chr8:g.6735326C>T (hg19) ; chr8:g.6877804C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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