Canonical Allele Identifier: CA4612751
Gene: DEFB1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1047031

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870676C>T , CM000670.2:g.6870676C>T GRCh38
NC_000008.10:g.6728198C>T , CM000670.1:g.6728198C>T GRCh37
NC_000008.9:g.6715608C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_005218.3:c.*5G>A VV NP_005209.1:p.=
NM_005218.4:c.*5G>A VV MANE Preferred
ENST00000297439.3:c.*5G>A ENSP00000297439.3:p.=