Canonical Allele Identifier: CA151295
Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 126928
ClinVar RCV Id: RCV000114784 RCV000991180 RCV001588923 RCV002243759 RCV002354289 RCV003935092
dbSNP Id: rs273585623
ExAC: 16:88500057 C / A
gnomAD v2: 16-88500057-C-A
gnomAD v3: 16-88433649-C-A
gnomAD v4: 16-88433649-C-A
MyVariant Identifiers: chr16:g.88500057C>A (hg19) chr16:g.88433649C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88433649C>A , CM000678.2:g.88433649C>A GRCh38
NC_000016.9:g.88500057C>A , CM000678.1:g.88500057C>A GRCh37
NC_000016.8:g.87027558C>A NCBI36
NG_012236.2:g.11179C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000565624.3:c.6179C>A MANE Select ENSP00000456500.2:p.Ser2060Tyr
ENST00000437464.1:c.6095C>A ENSP00000402343.1:p.Ser2032Tyr
ENST00000565624.1:c.6179C>A ENSP00000456500.1:p.Ser2060Tyr
NM_001127464.2:c.6095C>A NP_001120936.2:p.Ser2032Tyr
XM_011523386.1:c.6179C>A XP_011521688.1:p.Ser2060Tyr
XM_011523387.1:c.6179C>A XP_011521689.1:p.Ser2060Tyr
XM_011523388.1:c.6179C>A XP_011521690.1:p.Ser2060Tyr
XM_017023784.1:c.6179C>A XP_016879273.1:p.Ser2060Tyr
XM_017023785.1:c.6179C>A XP_016879274.1:p.Ser2060Tyr
NM_001367624.1:c.6179C>A NP_001354553.1:p.Ser2060Tyr
NM_001367624.2:c.6179C>A MANE Select NP_001354553.1:p.Ser2060Tyr
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