Canonical Allele Identifier: CA4612907
Gene: DEFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.6877901C>G
GRCh37 chr8:g.6735423C>G
gnomAD v2:
8:6735423 C / G
gnomAD v3:
8:6877901 C / G
gnomAD v4:
chr8-6877901-C-G
Joint Max Group AF 0.91539467 (AFR)
Genomes Max Group AF 0.91133671 (AFR)
Exomes Max Group AF 0.91513124 (AFR)
dbSNP:
1800972
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877901C>G , CM000670.2:g.6877901C>G GRCh38
NC_000008.10:g.6735423C>G , CM000670.1:g.6735423C>G GRCh37
NC_000008.9:g.6722833C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-44G>C MANE Select ENSP00000297439.3:n.-44G>C
ENST00000297439.3:c.-44G>C ENSP00000297439.3:n.-44G>C
NM_005218.3:c.-44G>C NP_005209.1:n.-44G>C
NM_005218.4:c.-44G>C MANE Select NP_005209.1:n.-44G>C
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