Canonical Allele Identifier: CA854600447

Gene: DEFB1

Linked Data

• dbSNP Id: rs1313469838
• gnomAD v3: 8-6870587-G-A
• gnomAD v4: 8-6870587-G-A
• MyVariant Identifiers: chr8:g.6728109G>A (hg19) ; chr8:g.6870587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870587G>A , CM000670.2:g.6870587G>A	GRCh38
NC_000008.10:g.6728109G>A , CM000670.1:g.6728109G>A	GRCh37
NC_000008.9:g.6715519G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*94C>T	ENSP00000297439.3:n.*94C>T
NM_005218.3:c.*94C>T	NP_005209.1:n.*94C>T