Canonical Allele Identifier: CA2015844
Gene: ZNF804A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.184936178A>T
GRCh37 chr2:g.185800905A>T
Revel Score:
ENST00000302277 (MANE Select) 0.062
gnomAD v2:
2:185800905 A / T
gnomAD v3:
2:184936178 A / T
gnomAD v4:
chr2-184936178-A-T
Joint Max Group AF 0.84067803 (EAS)
Genomes Max Group AF 0.810136 (EAS)
Exomes Max Group AF 0.84242392 (EAS)
ClinVar RCV:
RCV001597340
ClinVar Variation:
1221151
dbSNP:
12476147
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.184936178A>T , CM000664.2:g.184936178A>T GRCh38
NC_000002.11:g.185800905A>T , CM000664.1:g.185800905A>T GRCh37
NC_000002.10:g.185509150A>T NCBI36
NG_046950.1:g.342813A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302277.7:c.782A>T MANE Select ENSP00000303252.6:p.Gln261Leu
ENST00000302277.6:c.782A>T ENSP00000303252.6:p.Gln261Leu
ENST00000613975.1:c.527A>T ENSP00000483032.1:p.Gln176Leu
NM_194250.1:c.782A>T NP_919226.1:p.Gln261Leu
NM_194250.2:c.782A>T MANE Select NP_919226.1:p.Gln261Leu
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