Canonical Allele Identifier: CA370230813
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1291561428
gnomAD v2: 8-6735326-C-G
gnomAD v4: 8-6877804-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877804C>G , CM000670.2:g.6877804C>G GRCh38
NC_000008.10:g.6735326C>G , CM000670.1:g.6735326C>G GRCh37
NC_000008.9:g.6722736C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.54G>C MANE Select ENSP00000297439.3:p.Met18Ile
ENST00000297439.3:c.54G>C ENSP00000297439.3:p.Met18Ile
NM_005218.3:c.54G>C NP_005209.1:p.Met18Ile
NM_005218.4:c.54G>C MANE Select NP_005209.1:p.Met18Ile