Canonical Allele Identifier: CA1761188591
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806587818
gnomAD v4: 8-6877784-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877784T>C , CM000670.2:g.6877784T>C GRCh38
NC_000008.10:g.6735306T>C , CM000670.1:g.6735306T>C GRCh37
NC_000008.9:g.6722716T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+13A>G MANE Select ENSP00000297439.3:n.61+13A>G
ENST00000297439.3:c.61+13A>G ENSP00000297439.3:n.61+13A>G
NM_005218.3:c.61+13A>G NP_005209.1:n.61+13A>G
NM_005218.4:c.61+13A>G MANE Select NP_005209.1:n.61+13A>G