Canonical Allele Identifier: CA4612865

Gene: DEFB1

Linked Data

• dbSNP Id: rs2293958
• ExAC: 8:6735300 T / A
• gnomAD v2: 8-6735300-T-A
• gnomAD v3: 8-6877778-T-A
• gnomAD v4: 8-6877778-T-A
• MyVariant Identifiers: chr8:g.6735300T>A (hg19) ; chr8:g.6877778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877778T>A , CM000670.2:g.6877778T>A	GRCh38
NC_000008.10:g.6735300T>A , CM000670.1:g.6735300T>A	GRCh37
NC_000008.9:g.6722710T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61+19A>T MANE Select	ENSP00000297439.3:n.61+19A>T
ENST00000297439.3:c.61+19A>T	ENSP00000297439.3:n.61+19A>T
NM_005218.3:c.61+19A>T	NP_005209.1:n.61+19A>T
NM_005218.4:c.61+19A>T MANE Select	NP_005209.1:n.61+19A>T