Canonical Allele Identifier: CA1110233962
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1225095417
gnomAD v3: 8-6877766-A-C
gnomAD v4: 8-6877766-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877766A>C , CM000670.2:g.6877766A>C GRCh38
NC_000008.10:g.6735288A>C , CM000670.1:g.6735288A>C GRCh37
NC_000008.9:g.6722698A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+31T>G MANE Select ENSP00000297439.3:n.61+31T>G
ENST00000297439.3:c.61+31T>G ENSP00000297439.3:n.61+31T>G
NM_005218.3:c.61+31T>G NP_005209.1:n.61+31T>G
NM_005218.4:c.61+31T>G MANE Select NP_005209.1:n.61+31T>G
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