Canonical Allele Identifier: CA1761188541
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs944168295
gnomAD v4: 8-6877729-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877729G>C , CM000670.2:g.6877729G>C GRCh38
NC_000008.10:g.6735251G>C , CM000670.1:g.6735251G>C GRCh37
NC_000008.9:g.6722661G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+68C>G MANE Select ENSP00000297439.3:n.61+68C>G
ENST00000297439.3:c.61+68C>G ENSP00000297439.3:n.61+68C>G
NM_005218.3:c.61+68C>G NP_005209.1:n.61+68C>G
NM_005218.4:c.61+68C>G MANE Select NP_005209.1:n.61+68C>G
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