Canonical Allele Identifier: CA4612751
Gene: DEFB1 HGNC NCBI
COSMIC:
COSN168266 (not active)
MyVariant.info:
GRCh38 chr8:g.6870676C>T
GRCh37 chr8:g.6728198C>T
gnomAD v2:
8:6728198 C / T
gnomAD v3:
8:6870676 C / T
gnomAD v4:
chr8-6870676-C-T
Joint Max Group AF 0.38116633 (EAS)
Genomes Max Group AF 0.37880532 (EAS)
Exomes Max Group AF 0.37994995 (EAS)
dbSNP:
1047031
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870676C>T , CM000670.2:g.6870676C>T GRCh38
NC_000008.10:g.6728198C>T , CM000670.1:g.6728198C>T GRCh37
NC_000008.9:g.6715608C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*5G>A MANE Select ENSP00000297439.3:n.*5G>A
ENST00000297439.3:c.*5G>A ENSP00000297439.3:n.*5G>A
NM_005218.3:c.*5G>A NP_005209.1:n.*5G>A
NM_005218.4:c.*5G>A MANE Select NP_005209.1:n.*5G>A
Search 100 bp 5'
Search 100 bp 3'