Canonical Allele Identifier: CA171486036

Gene: DEFB1

Linked Data

• dbSNP Id: rs5743419
• gnomAD v3: 8-6877728-C-G
• gnomAD v4: 8-6877728-C-G
• MyVariant Identifiers: chr8:g.6735250C>G (hg19) ; chr8:g.6877728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877728C>G , CM000670.2:g.6877728C>G	GRCh38
NC_000008.10:g.6735250C>G , CM000670.1:g.6735250C>G	GRCh37
NC_000008.9:g.6722660C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.4:c.61+69G>C MANE Select	ENSP00000297439.3:n.61+69G>C
ENST00000297439.3:c.61+69G>C	ENSP00000297439.3:n.61+69G>C
NM_005218.3:c.61+69G>C	NP_005209.1:n.61+69G>C
NM_005218.4:c.61+69G>C MANE Select	NP_005209.1:n.61+69G>C