Canonical Allele Identifier: CA370230818
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877805-A-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.53T>C MANE Select ENSP00000297439.3:p.Met18Thr
ENST00000297439.3:c.53T>C ENSP00000297439.3:p.Met18Thr
NM_005218.3:c.53T>C NP_005209.1:p.Met18Thr
NM_005218.4:c.53T>C MANE Select NP_005209.1:p.Met18Thr