Canonical Allele Identifier: CA854609534

Gene: DEFB1

Linked Data

• dbSNP Id: rs1443051639
• gnomAD v3: 8-6878007-A-C
• gnomAD v4: 8-6878007-A-C
• MyVariant Identifiers: chr8:g.6735529A>C (hg19) ; chr8:g.6878007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6878007A>C , CM000670.2:g.6878007A>C	GRCh38
NC_000008.10:g.6735529A>C , CM000670.1:g.6735529A>C	GRCh37
NC_000008.9:g.6722939A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.3:c.-150T>G	ENSP00000297439.3:n.-150T>G
NM_005218.3:c.-150T>G	NP_005209.1:n.-150T>G