Canonical Allele Identifier: CA10638622
Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 321006
ClinVar RCV Id: RCV000308943 RCV001837823 RCV002379202 RCV003957655
dbSNP Id: rs867530230
gnomAD v2: 16-88503554-C-A
gnomAD v3: 16-88437146-C-A
gnomAD v4: 16-88437146-C-A
MyVariant Identifiers: chr16:g.88503554C>A (hg19) chr16:g.88437146C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88437146C>A , CM000678.2:g.88437146C>A GRCh38
NC_000016.9:g.88503554C>A , CM000678.1:g.88503554C>A GRCh37
NC_000016.8:g.87031055C>A NCBI36
NG_012236.2:g.14676C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000565624.3:c.9676C>A MANE Select ENSP00000456500.2:p.His3226Asn
ENST00000437464.1:c.9592C>A ENSP00000402343.1:p.His3198Asn
ENST00000565624.1:c.9676C>A ENSP00000456500.1:p.His3226Asn
NM_001127464.2:c.9592C>A NP_001120936.2:p.His3198Asn
XM_011523386.1:c.9676C>A XP_011521688.1:p.His3226Asn
XM_011523387.1:c.9676C>A XP_011521689.1:p.His3226Asn
XM_011523388.1:c.9676C>A XP_011521690.1:p.His3226Asn
XM_017023784.1:c.9676C>A XP_016879273.1:p.His3226Asn
XM_017023785.1:c.9676C>A XP_016879274.1:p.His3226Asn
NM_001367624.1:c.9676C>A NP_001354553.1:p.His3226Asn
NM_001367624.2:c.9676C>A MANE Select NP_001354553.1:p.His3226Asn
Search 100 bp 5'
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