Canonical Allele Identifier: CA171472814
Gene: DEFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.6870594T>C
GRCh37 chr8:g.6728116T>C
gnomAD v2:
8:6728116 T / C
gnomAD v3:
8:6870594 T / C
gnomAD v4:
chr8-6870594-T-C
Joint Max Group AF 0.21714812 (AFR)
Genomes Max Group AF 0.21523753 (AFR)
Exomes Max Group AF 0.21696989 (AFR)
dbSNP:
1800971
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870594T>C , CM000670.2:g.6870594T>C GRCh38
NC_000008.10:g.6728116T>C , CM000670.1:g.6728116T>C GRCh37
NC_000008.9:g.6715526T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*87A>G MANE Select ENSP00000297439.3:n.*87A>G
ENST00000297439.3:c.*87A>G ENSP00000297439.3:n.*87A>G
NM_005218.3:c.*87A>G NP_005209.1:n.*87A>G
NM_005218.4:c.*87A>G MANE Select NP_005209.1:n.*87A>G
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