Canonical Allele Identifier: CA171472814
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1800971
gnomAD v2: 8-6728116-T-C
gnomAD v3: 8-6870594-T-C
gnomAD v4: 8-6870594-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870594T>C , CM000670.2:g.6870594T>C GRCh38
NC_000008.10:g.6728116T>C , CM000670.1:g.6728116T>C GRCh37
NC_000008.9:g.6715526T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.*87A>G MANE Select ENSP00000297439.3:n.*87A>G
ENST00000297439.3:c.*87A>G ENSP00000297439.3:n.*87A>G
NM_005218.3:c.*87A>G NP_005209.1:n.*87A>G
NM_005218.4:c.*87A>G MANE Select NP_005209.1:n.*87A>G