Canonical Allele Identifier: CA1761188499
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1173963576
gnomAD v4: 8-6877669-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877669A>T , CM000670.2:g.6877669A>T GRCh38
NC_000008.10:g.6735191A>T , CM000670.1:g.6735191A>T GRCh37
NC_000008.9:g.6722601A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+128T>A MANE Select ENSP00000297439.3:n.61+128T>A
ENST00000297439.3:c.61+128T>A ENSP00000297439.3:n.61+128T>A
NM_005218.3:c.61+128T>A NP_005209.1:n.61+128T>A
NM_005218.4:c.61+128T>A MANE Select NP_005209.1:n.61+128T>A
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