Canonical Allele Identifier: CA171486004
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs5743420
gnomAD v2: 8-6735236-C-T
gnomAD v3: 8-6877714-C-T
gnomAD v4: 8-6877714-C-T
MyVariant Identifiers: chr8:g.6735236C>T (hg19) chr8:g.6877714C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877714C>T , CM000670.2:g.6877714C>T GRCh38
NC_000008.10:g.6735236C>T , CM000670.1:g.6735236C>T GRCh37
NC_000008.9:g.6722646C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+83G>A MANE Select ENSP00000297439.3:n.61+83G>A
ENST00000297439.3:c.61+83G>A ENSP00000297439.3:n.61+83G>A
NM_005218.3:c.61+83G>A NP_005209.1:n.61+83G>A
NM_005218.4:c.61+83G>A MANE Select NP_005209.1:n.61+83G>A
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