Canonical Allele Identifier: CA4612874

Gene: DEFB1

Linked Data

• dbSNP Id: rs371897938
• ExAC: 8:6735319 C / G
• gnomAD v2: 8-6735319-C-G
• gnomAD v3: 8-6877797-C-G
• gnomAD v4: 8-6877797-C-G
• MyVariant Identifiers: chr8:g.6735319C>G (hg19) ; chr8:g.6877797C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61G>C MANE Select	ENSP00000297439.3:p.Gly21Arg
ENST00000297439.3:c.61G>C	ENSP00000297439.3:p.Gly21Arg
NM_005218.3:c.61G>C	NP_005209.1:p.Gly21Arg
NM_005218.4:c.61G>C MANE Select	NP_005209.1:p.Gly21Arg