Canonical Allele Identifier: CA459186116

Gene: DEFB1

Linked Data

• dbSNP Id: rs1158323190
• gnomAD v2: 8-6735323-G-T
• gnomAD v3: 8-6877801-G-T
• gnomAD v4: 8-6877801-G-T
• MyVariant Identifiers: chr8:g.6735323G>T (hg19) ; chr8:g.6877801G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877801G>T , CM000670.2:g.6877801G>T	GRCh38
NC_000008.10:g.6735323G>T , CM000670.1:g.6735323G>T	GRCh37
NC_000008.9:g.6722733G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.57C>A MANE Select	ENSP00000297439.3:p.Ala19=
ENST00000297439.3:c.57C>A	ENSP00000297439.3:p.Ala19=
NM_005218.3:c.57C>A	NP_005209.1:p.Ala19=
NM_005218.4:c.57C>A MANE Select	NP_005209.1:p.Ala19=