Canonical Allele Identifier: CA286371187

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 1191146
• ClinVar RCV Id: RCV001552109 ; RCV002458523
• dbSNP Id: rs569870332
• gnomAD v2: 16-88493904-C-T
• gnomAD v3: 16-88427496-C-T
• gnomAD v4: 16-88427496-C-T
• MyVariant Identifiers: chr16:g.88493904C>T (hg19) ; chr16:g.88427496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88427496C>T , CM000678.2:g.88427496C>T	GRCh38
NC_000016.9:g.88493904C>T , CM000678.1:g.88493904C>T	GRCh37
NC_000016.8:g.87021405C>T	NCBI36
NG_012236.2:g.5026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000565624.3:c.26C>T MANE Select	ENSP00000456500.2:p.Ala9Val
ENST00000437464.1:c.26C>T	ENSP00000402343.1:p.Ala9Val
ENST00000565624.1:c.26C>T	ENSP00000456500.1:p.Ala9Val
NM_001127464.2:c.26C>T	NP_001120936.2:p.Ala9Val
XM_011523386.1:c.26C>T	XP_011521688.1:p.Ala9Val
XM_011523387.1:c.26C>T	XP_011521689.1:p.Ala9Val
XM_011523388.1:c.26C>T	XP_011521690.1:p.Ala9Val
XM_017023784.1:c.26C>T	XP_016879273.1:p.Ala9Val
XM_017023785.1:c.26C>T	XP_016879274.1:p.Ala9Val
XR_002957934.1:n.250+2468G>A
NM_001367624.1:c.26C>T	NP_001354553.1:p.Ala9Val
NM_001367624.2:c.26C>T MANE Select	NP_001354553.1:p.Ala9Val