Canonical Allele Identifier: CA2686022898
Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6870611-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870611T>C , CM000670.2:g.6870611T>C GRCh38
NC_000008.10:g.6728133T>C , CM000670.1:g.6728133T>C GRCh37
NC_000008.9:g.6715543T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*70A>G MANE Select ENSP00000297439.3:n.*70A>G
ENST00000297439.3:c.*70A>G ENSP00000297439.3:n.*70A>G
NM_005218.3:c.*70A>G NP_005209.1:n.*70A>G
NM_005218.4:c.*70A>G MANE Select NP_005209.1:n.*70A>G