Canonical Allele Identifier: CA579664816

Gene: DEFB1

Linked Data

• dbSNP Id: rs1431696343
• gnomAD v2: 8-6735466-C-T
• gnomAD v3: 8-6877944-C-T
• gnomAD v4: 8-6877944-C-T
• MyVariant Identifiers: chr8:g.6735466C>T (hg19) ; chr8:g.6877944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877944C>T , CM000670.2:g.6877944C>T	GRCh38
NC_000008.10:g.6735466C>T , CM000670.1:g.6735466C>T	GRCh37
NC_000008.9:g.6722876C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.-87G>A	ENSP00000297439.3:n.-87G>A
NM_005218.3:c.-87G>A	NP_005209.1:n.-87G>A