Canonical Allele Identifier: CA171486643

Gene: DEFB1

Linked Data

• dbSNP Id: rs200605801
• gnomAD v3: 8-6878010-T-C
• gnomAD v4: 8-6878010-T-C
• MyVariant Identifiers: chr8:g.6735532T>C (hg19) ; chr8:g.6878010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6878010T>C , CM000670.2:g.6878010T>C	GRCh38
NC_000008.10:g.6735532T>C , CM000670.1:g.6735532T>C	GRCh37
NC_000008.9:g.6722942T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.3:c.-153A>G	ENSP00000297439.3:n.-153A>G