Canonical Allele Identifier: CA854600443

Gene: DEFB1

Linked Data

• dbSNP Id: rs1202573799
• gnomAD v4: 8-6870583-C-G
• MyVariant Identifiers: chr8:g.6728105C>G (hg19) ; chr8:g.6870583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6870583C>G , CM000670.2:g.6870583C>G	GRCh38
NC_000008.10:g.6728105C>G , CM000670.1:g.6728105C>G	GRCh37
NC_000008.9:g.6715515C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.*98G>C	ENSP00000297439.3:n.*98G>C
NM_005218.3:c.*98G>C	NP_005209.1:n.*98G>C