Canonical Allele Identifier: CA1110234185
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs938622558
gnomAD v3: 8-6877930-G-C
gnomAD v4: 8-6877930-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877930G>C , CM000670.2:g.6877930G>C GRCh38
NC_000008.10:g.6735452G>C , CM000670.1:g.6735452G>C GRCh37
NC_000008.9:g.6722862G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-73C>G MANE Select ENSP00000297439.3:n.-73C>G
ENST00000297439.3:c.-73C>G ENSP00000297439.3:n.-73C>G
NM_005218.3:c.-73C>G NP_005209.1:n.-73C>G
NM_005218.4:c.-73C>G MANE Select NP_005209.1:n.-73C>G