Canonical Allele Identifier: CA171472736

Gene: DEFB1

Linked Data

• dbSNP Id: rs925821387
• gnomAD v2: 8-6728107-A-G
• gnomAD v3: 8-6870585-A-G
• gnomAD v4: 8-6870585-A-G
• MyVariant Identifiers: chr8:g.6728107A>G (hg19) ; chr8:g.6870585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870585A>G , CM000670.2:g.6870585A>G	GRCh38
NC_000008.10:g.6728107A>G , CM000670.1:g.6728107A>G	GRCh37
NC_000008.9:g.6715517A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*96T>C	ENSP00000297439.3:n.*96T>C
NM_005218.3:c.*96T>C	NP_005209.1:n.*96T>C