Canonical Allele Identifier: CA9714572
Gene: ZNF497 HGNC NCBI
ClinVar RCV:
RCV004207775
ClinVar Variation:
2370986
dbSNP:
200602128
gnomAD v2:
19:58868821 G / C
gnomAD v3:
19:58357455 G / C
gnomAD v4:
chr19-58357455-G-C
Joint Max Group AF 0.0000249 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.000023 (NFE)
MyVariant.info:
GRCh38 chr19:g.58357455G>C
GRCh37 chr19:g.58868821G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58357455G>C , CM000681.2:g.58357455G>C GRCh38
NC_000019.9:g.58868821G>C , CM000681.1:g.58868821G>C GRCh37
NC_000019.8:g.63560633G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000311044.8:c.181C>G MANE Select ENSP00000311183.2:p.Leu61Val
ENST00000311044.7:c.181C>G ENSP00000311183.2:p.Leu61Val
ENST00000425453.3:c.181C>G ENSP00000402815.2:p.Leu61Val
ENST00000595763.1:c.310C>G ENSP00000471650.1:p.Leu104Val
NM_001207009.1:c.181C>G NP_001193938.1:p.Leu61Val
NM_198458.2:c.181C>G NP_940860.2:p.Leu61Val
NM_198458.3:c.181C>G MANE Select NP_940860.2:p.Leu61Val
NM_001207009.2:c.181C>G NP_001193938.1:p.Leu61Val
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