Canonical Allele Identifier: CA4612879
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs138110643
ExAC: 8:6735345 C / T
gnomAD v2: 8-6735345-C-T
gnomAD v3: 8-6877823-C-T
gnomAD v4: 8-6877823-C-T
MyVariant Identifiers: chr8:g.6735345C>T (hg19) chr8:g.6735345_6735346delinsTA (hg19) chr8:g.6877823C>T (hg38) chr8:g.6877823_6877824delinsTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877823C>T , CM000670.2:g.6877823C>T GRCh38
NC_000008.10:g.6735345C>T , CM000670.1:g.6735345C>T GRCh37
NC_000008.9:g.6722755C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.35G>A MANE Select ENSP00000297439.3:p.Cys12Tyr
ENST00000297439.3:c.35G>A ENSP00000297439.3:p.Cys12Tyr
NM_005218.3:c.35G>A NP_005209.1:p.Cys12Tyr
NM_005218.4:c.35G>A MANE Select NP_005209.1:p.Cys12Tyr
Search 100 bp 5'
Search 100 bp 3'