Canonical Allele Identifier: CA171472806

Gene: DEFB1

Linked Data

• dbSNP Id: rs530573834
• gnomAD v2: 8-6728113-G-A
• gnomAD v3: 8-6870591-G-A
• gnomAD v4: 8-6870591-G-A
• MyVariant Identifiers: chr8:g.6728113G>A (hg19) ; chr8:g.6870591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870591G>A , CM000670.2:g.6870591G>A	GRCh38
NC_000008.10:g.6728113G>A , CM000670.1:g.6728113G>A	GRCh37
NC_000008.9:g.6715523G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*90C>T	ENSP00000297439.3:n.*90C>T
NM_005218.3:c.*90C>T	NP_005209.1:n.*90C>T