Canonical Allele Identifier: CA8224843

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 320905
• ClinVar RCV Id: RCV002278450 ; RCV002446573
• dbSNP Id: rs763826959
• ExAC: 16:88497199 G / A
• gnomAD v2: 16-88497199-G-A
• gnomAD v3: 16-88430791-G-A
• gnomAD v4: 16-88430791-G-A
• MyVariant Identifiers: chr16:g.88497199G>A (hg19) ; chr16:g.88430791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88430791G>A , CM000678.2:g.88430791G>A	GRCh38
NC_000016.9:g.88497199G>A , CM000678.1:g.88497199G>A	GRCh37
NC_000016.8:g.87024700G>A	NCBI36
NG_012236.2:g.8321G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000565624.3:c.3321G>A MANE Select	ENSP00000456500.2:p.Arg1107=
ENST00000437464.1:c.3237G>A	ENSP00000402343.1:p.Arg1079=
ENST00000565624.1:c.3321G>A	ENSP00000456500.1:p.Arg1107=
NM_001127464.2:c.3237G>A	NP_001120936.2:p.Arg1079=
XM_011523386.1:c.3321G>A	XP_011521688.1:p.Arg1107=
XM_011523387.1:c.3321G>A	XP_011521689.1:p.Arg1107=
XM_011523388.1:c.3321G>A	XP_011521690.1:p.Arg1107=
XM_017023784.1:c.3321G>A	XP_016879273.1:p.Arg1107=
XM_017023785.1:c.3321G>A	XP_016879274.1:p.Arg1107=
NM_001367624.1:c.3321G>A	NP_001354553.1:p.Arg1107=
NM_001367624.2:c.3321G>A MANE Select	NP_001354553.1:p.Arg1107=