Canonical Allele Identifier: CA8224562

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 1213103
• ClinVar RCV Id: RCV001589691 ; RCV002425001
• dbSNP Id: rs551558555
• ExAC: 16:88493902 A / G
• gnomAD v2: 16-88493902-A-G
• gnomAD v3: 16-88427494-A-G
• gnomAD v4: 16-88427494-A-G
• MyVariant Identifiers: chr16:g.88493902A>G (hg19) ; chr16:g.88427494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88427494A>G , CM000678.2:g.88427494A>G	GRCh38
NC_000016.9:g.88493902A>G , CM000678.1:g.88493902A>G	GRCh37
NC_000016.8:g.87021403A>G	NCBI36
NG_012236.2:g.5024A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000565624.3:c.24A>G MANE Select	ENSP00000456500.2:p.Gly8=
ENST00000437464.1:c.24A>G	ENSP00000402343.1:p.Gly8=
ENST00000565624.1:c.24A>G	ENSP00000456500.1:p.Gly8=
NM_001127464.2:c.24A>G	NP_001120936.2:p.Gly8=
XM_011523386.1:c.24A>G	XP_011521688.1:p.Gly8=
XM_011523387.1:c.24A>G	XP_011521689.1:p.Gly8=
XM_011523388.1:c.24A>G	XP_011521690.1:p.Gly8=
XM_017023784.1:c.24A>G	XP_016879273.1:p.Gly8=
XM_017023785.1:c.24A>G	XP_016879274.1:p.Gly8=
XR_002957934.1:n.250+2470T>C
NM_001367624.1:c.24A>G	NP_001354553.1:p.Gly8=
NM_001367624.2:c.24A>G MANE Select	NP_001354553.1:p.Gly8=