Canonical Allele Identifier: CA2686022887
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870590-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870590G>C , CM000670.2:g.6870590G>C GRCh38
NC_000008.10:g.6728112G>C , CM000670.1:g.6728112G>C GRCh37
NC_000008.9:g.6715522G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.3:c.*91C>G ENSP00000297439.3:n.*91C>G
NM_005218.3:c.*91C>G NP_005209.1:n.*91C>G