Canonical Allele Identifier: CA171486174

Gene: DEFB1

Linked Data

• dbSNP Id: rs371897938
• gnomAD v4: 8-6877797-C-T
• MyVariant Identifiers: chr8:g.6735319C>T (hg19) ; chr8:g.6877797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877797C>T , CM000670.2:g.6877797C>T	GRCh38
NC_000008.10:g.6735319C>T , CM000670.1:g.6735319C>T	GRCh37
NC_000008.9:g.6722729C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61G>A MANE Select	ENSP00000297439.3:p.Gly21Ser
ENST00000297439.3:c.61G>A	ENSP00000297439.3:p.Gly21Ser
NM_005218.3:c.61G>A	NP_005209.1:p.Gly21Ser
NM_005218.4:c.61G>A MANE Select	NP_005209.1:p.Gly21Ser