Canonical Allele Identifier: CA8224622

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 379787
• ClinVar RCV Id: RCV001720029 ; RCV002244876 ; RCV002392966 ; RCV003959886
• dbSNP Id: rs540655479
• ExAC: 16:88494629 C / A
• gnomAD v2: 16-88494629-C-A
• gnomAD v3: 16-88428221-C-A
• gnomAD v4: 16-88428221-C-A
• MyVariant Identifiers: chr16:g.88494629C>A (hg19) ; chr16:g.88428221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88428221C>A , CM000678.2:g.88428221C>A	GRCh38
NC_000016.9:g.88494629C>A , CM000678.1:g.88494629C>A	GRCh37
NC_000016.8:g.87022130C>A	NCBI36
NG_012236.2:g.5751C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.751C>A MANE Select	ENSP00000456500.2:p.Pro251Thr
ENST00000437464.1:c.751C>A	ENSP00000402343.1:p.Pro251Thr
ENST00000565624.1:c.751C>A	ENSP00000456500.1:p.Pro251Thr
NM_001127464.2:c.751C>A	NP_001120936.2:p.Pro251Thr
XM_011523386.1:c.751C>A	XP_011521688.1:p.Pro251Thr
XM_011523387.1:c.751C>A	XP_011521689.1:p.Pro251Thr
XM_011523388.1:c.751C>A	XP_011521690.1:p.Pro251Thr
XM_017023784.1:c.751C>A	XP_016879273.1:p.Pro251Thr
XM_017023785.1:c.751C>A	XP_016879274.1:p.Pro251Thr
XR_002957934.1:n.250+1743G>T
NM_001367624.1:c.751C>A	NP_001354553.1:p.Pro251Thr
NM_001367624.2:c.751C>A MANE Select	NP_001354553.1:p.Pro251Thr