Canonical Allele Identifier: CA11092791
Gene: ZNF804A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.184598458T>A
GRCh37 chr2:g.185463185T>A
gnomAD v2:
2:185463185 T / A
gnomAD v3:
2:184598458 T / A
gnomAD v4:
chr2-184598458-T-A
Joint Max Group AF 0.65532032 (AFR)
Genomes Max Group AF 0.65534208 (AFR)
Exomes Max Group AF 0.42351229 (NFE)
dbSNP:
359895
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.184598458T>A , CM000664.2:g.184598458T>A GRCh38
NC_000002.11:g.185463185T>A , CM000664.1:g.185463185T>A GRCh37
NC_000002.10:g.185171430T>A NCBI36
NG_046950.1:g.5093T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302277.6:c.-502T>A ENSP00000303252.6:n.-502T>A
NM_194250.1:c.-502T>A NP_919226.1:n.-502T>A
XM_011512285.1:c.428A>T XP_011510587.1:p.Gln143Leu
NR_171621.1:n.465A>T
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