Canonical Allele Identifier: CA370230796

Gene: DEFB1

Linked Data

• MyVariant Identifiers: chr8:g.6735322A>G (hg19) ; chr8:g.6877800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877800A>G , CM000670.2:g.6877800A>G	GRCh38
NC_000008.10:g.6735322A>G , CM000670.1:g.6735322A>G	GRCh37
NC_000008.9:g.6722732A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.58T>C MANE Select	ENSP00000297439.3:p.Ser20Pro
ENST00000297439.3:c.58T>C	ENSP00000297439.3:p.Ser20Pro
NM_005218.3:c.58T>C	NP_005209.1:p.Ser20Pro
NM_005218.4:c.58T>C MANE Select	NP_005209.1:p.Ser20Pro