Canonical Allele Identifier: CA171472721

Gene: DEFB1

Linked Data

• dbSNP Id: rs759096739
• gnomAD v4: 8-6870581-C-A
• MyVariant Identifiers: chr8:g.6728103C>A (hg19) ; chr8:g.6870581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870581C>A , CM000670.2:g.6870581C>A	GRCh38
NC_000008.10:g.6728103C>A , CM000670.1:g.6728103C>A	GRCh37
NC_000008.9:g.6715513C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*100G>T	ENSP00000297439.3:n.*100G>T
NM_005218.3:c.*100G>T	NP_005209.1:n.*100G>T