Canonical Allele Identifier: CA579664806

Gene: DEFB1

Linked Data

• dbSNP Id: rs1178119681
• gnomAD v2: 8-6735408-C-T
• gnomAD v4: 8-6877886-C-T
• MyVariant Identifiers: chr8:g.6735408C>T (hg19) ; chr8:g.6877886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877886C>T , CM000670.2:g.6877886C>T	GRCh38
NC_000008.10:g.6735408C>T , CM000670.1:g.6735408C>T	GRCh37
NC_000008.9:g.6722818C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-29G>A MANE Select	ENSP00000297439.3:n.-29G>A
ENST00000297439.3:c.-29G>A	ENSP00000297439.3:n.-29G>A
NM_005218.3:c.-29G>A	NP_005209.1:n.-29G>A
NM_005218.4:c.-29G>A MANE Select	NP_005209.1:n.-29G>A