Canonical Allele Identifier: CA8225182
Gene: ZNF469 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88434270G>A
GRCh37 chr16:g.88500678G>A
Revel Score:
ENST00000437464 0.004
gnomAD v2:
16:88500678 G / A
gnomAD v3:
16:88434270 G / A
gnomAD v4:
chr16-88434270-G-A
Joint Max Group AF 0.00674764 (AFR)
Genomes Max Group AF 0.00670666 (AFR)
Exomes Max Group AF 0.00632827 (AFR)
ClinVar Allele:
505826
ClinVar RCV:
RCV001712654
RCV002245045
RCV002377290
ClinVar Variation:
512512
dbSNP:
181887079
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88434270G>A , CM000678.2:g.88434270G>A GRCh38
NC_000016.9:g.88500678G>A , CM000678.1:g.88500678G>A GRCh37
NC_000016.8:g.87028179G>A NCBI36
NG_012236.2:g.11800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000565624.3:c.6800G>A MANE Select ENSP00000456500.2:p.Arg2267Gln
ENST00000437464.1:c.6716G>A ENSP00000402343.1:p.Arg2239Gln
ENST00000565624.1:c.6800G>A ENSP00000456500.1:p.Arg2267Gln
NM_001127464.2:c.6716G>A NP_001120936.2:p.Arg2239Gln
XM_011523386.1:c.6800G>A XP_011521688.1:p.Arg2267Gln
XM_011523387.1:c.6800G>A XP_011521689.1:p.Arg2267Gln
XM_011523388.1:c.6800G>A XP_011521690.1:p.Arg2267Gln
XM_017023784.1:c.6800G>A XP_016879273.1:p.Arg2267Gln
XM_017023785.1:c.6800G>A XP_016879274.1:p.Arg2267Gln
NM_001367624.1:c.6800G>A NP_001354553.1:p.Arg2267Gln
NM_001367624.2:c.6800G>A MANE Select NP_001354553.1:p.Arg2267Gln
Search 100 bp 5'
Search 100 bp 3'