Canonical Allele Identifier: CA1110228370
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806271385
gnomAD v3: 8-6870607-A-G
gnomAD v4: 8-6870607-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870607A>G , CM000670.2:g.6870607A>G GRCh38
NC_000008.10:g.6728129A>G , CM000670.1:g.6728129A>G GRCh37
NC_000008.9:g.6715539A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.*74T>C MANE Select ENSP00000297439.3:n.*74T>C
ENST00000297439.3:c.*74T>C ENSP00000297439.3:n.*74T>C
NM_005218.3:c.*74T>C NP_005209.1:n.*74T>C
NM_005218.4:c.*74T>C MANE Select NP_005209.1:n.*74T>C
Search 100 bp 5'
Search 100 bp 3'