Canonical Allele Identifier: CA4612904

Gene: DEFB1

Linked Data

• dbSNP Id: rs202220918
• ExAC: 8:6735413 A / G
• gnomAD v2: 8-6735413-A-G
• gnomAD v3: 8-6877891-A-G
• gnomAD v4: 8-6877891-A-G
• MyVariant Identifiers: chr8:g.6735413A>G (hg19) ; chr8:g.6735413_6735414delinsGC (hg19) ; chr8:g.6877891A>G (hg38) ; chr8:g.6877891_6877892delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877891A>G , CM000670.2:g.6877891A>G	GRCh38
NC_000008.10:g.6735413A>G , CM000670.1:g.6735413A>G	GRCh37
NC_000008.9:g.6722823A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-34T>C MANE Select	ENSP00000297439.3:n.-34T>C
ENST00000297439.3:c.-34T>C	ENSP00000297439.3:n.-34T>C
NM_005218.3:c.-34T>C	NP_005209.1:n.-34T>C
NM_005218.4:c.-34T>C MANE Select	NP_005209.1:n.-34T>C