Canonical Allele Identifier: CA286385645

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 493199
• ClinVar RCV Id: RCV000585209
• dbSNP Id: rs1046436333
• gnomAD v2: 16-88503551-G-A
• gnomAD v3: 16-88437143-G-A
• gnomAD v4: 16-88437143-G-A
• MyVariant Identifiers: chr16:g.88503551G>A (hg19) ; chr16:g.88437143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437143G>A , CM000678.2:g.88437143G>A	GRCh38
NC_000016.9:g.88503551G>A , CM000678.1:g.88503551G>A	GRCh37
NC_000016.8:g.87031052G>A	NCBI36
NG_012236.2:g.14673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9673G>A MANE Select	ENSP00000456500.2:p.Ala3225Thr
ENST00000437464.1:c.9589G>A	ENSP00000402343.1:p.Ala3197Thr
ENST00000565624.1:c.9673G>A	ENSP00000456500.1:p.Ala3225Thr
NM_001127464.2:c.9589G>A	NP_001120936.2:p.Ala3197Thr
XM_011523386.1:c.9673G>A	XP_011521688.1:p.Ala3225Thr
XM_011523387.1:c.9673G>A	XP_011521689.1:p.Ala3225Thr
XM_011523388.1:c.9673G>A	XP_011521690.1:p.Ala3225Thr
XM_017023784.1:c.9673G>A	XP_016879273.1:p.Ala3225Thr
XM_017023785.1:c.9673G>A	XP_016879274.1:p.Ala3225Thr
NM_001367624.1:c.9673G>A	NP_001354553.1:p.Ala3225Thr
NM_001367624.2:c.9673G>A MANE Select	NP_001354553.1:p.Ala3225Thr