Canonical Allele Identifier: CA370230816

Gene: DEFB1

Linked Data

• gnomAD v4: 8-6877805-A-C
• MyVariant Identifiers: chr8:g.6735327A>C (hg19) ; chr8:g.6877805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877805A>C , CM000670.2:g.6877805A>C	GRCh38
NC_000008.10:g.6735327A>C , CM000670.1:g.6735327A>C	GRCh37
NC_000008.9:g.6722737A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.53T>G MANE Select	ENSP00000297439.3:p.Met18Arg
ENST00000297439.3:c.53T>G	ENSP00000297439.3:p.Met18Arg
NM_005218.3:c.53T>G	NP_005209.1:p.Met18Arg
NM_005218.4:c.53T>G MANE Select	NP_005209.1:p.Met18Arg