Canonical Allele Identifier: CA4612899
Gene: DEFB1 HGNC NCBI
COSMIC:
COSN168267 (not active)
MyVariant.info:
GRCh38 chr8:g.6877877C>T
GRCh37 chr8:g.6735399C>T
gnomAD v2:
8:6735399 C / T
gnomAD v3:
8:6877877 C / T
gnomAD v4:
chr8-6877877-C-T
Joint Max Group AF 0.45070594 (SAS)
Genomes Max Group AF 0.43694258 (NFE)
Exomes Max Group AF 0.45072421 (SAS)
dbSNP:
11362
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877877C>T , CM000670.2:g.6877877C>T GRCh38
NC_000008.10:g.6735399C>T , CM000670.1:g.6735399C>T GRCh37
NC_000008.9:g.6722809C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-20G>A MANE Select ENSP00000297439.3:n.-20G>A
ENST00000297439.3:c.-20G>A ENSP00000297439.3:n.-20G>A
NM_005218.3:c.-20G>A NP_005209.1:n.-20G>A
NM_005218.4:c.-20G>A MANE Select NP_005209.1:n.-20G>A
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