Canonical Allele Identifier: CA9714396
Gene: ZNF497 HGNC NCBI
ClinVar RCV:
RCV004184699
ClinVar Variation:
2347180
dbSNP:
367823997
gnomAD v2:
19:58868185 G / T
gnomAD v3:
19:58356819 G / T
gnomAD v4:
chr19-58356819-G-T
Joint Max Group AF 0.00000697 (NFE)
Genomes Max Group AF 0.00001173 (NFE)
Exomes Max Group AF 0.00000538 (NFE)
MyVariant.info:
GRCh38 chr19:g.58356819G>T
GRCh37 chr19:g.58868185G>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58356819G>T , CM000681.2:g.58356819G>T GRCh38
NC_000019.9:g.58868185G>T , CM000681.1:g.58868185G>T GRCh37
NC_000019.8:g.63559997G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000311044.8:c.817C>A MANE Select ENSP00000311183.2:p.Pro273Thr
ENST00000311044.7:c.817C>A ENSP00000311183.2:p.Pro273Thr
ENST00000425453.3:c.817C>A ENSP00000402815.2:p.Pro273Thr
NM_001207009.1:c.817C>A NP_001193938.1:p.Pro273Thr
NM_198458.2:c.817C>A NP_940860.2:p.Pro273Thr
NM_198458.3:c.817C>A MANE Select NP_940860.2:p.Pro273Thr
NM_001207009.2:c.817C>A NP_001193938.1:p.Pro273Thr
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