Canonical Allele Identifier: CA4612900
Gene: DEFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.6877880G>C
GRCh37 chr8:g.6735402G>C
gnomAD v2:
8:6735402 G / C
gnomAD v4:
chr8-6877880-G-C
Joint Max Group AF 0.00001965 (NFE)
Exomes Max Group AF 0.00002085 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877880G>C , CM000670.2:g.6877880G>C GRCh38
NC_000008.10:g.6735402G>C , CM000670.1:g.6735402G>C GRCh37
NC_000008.9:g.6722812G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-23C>G MANE Select ENSP00000297439.3:n.-23C>G
ENST00000297439.3:c.-23C>G ENSP00000297439.3:n.-23C>G
NM_005218.3:c.-23C>G NP_005209.1:n.-23C>G
NM_005218.4:c.-23C>G MANE Select NP_005209.1:n.-23C>G
Search 100 bp 5'
Search 100 bp 3'