Canonical Allele Identifier: CA725561874

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 3014709
• ClinVar RCV Id: RCV003878332
• dbSNP Id: rs1350473091
• gnomAD v3: 16-88427500-G-GC
• gnomAD v4: 16-88427500-G-GC
• MyVariant Identifiers: chr16:g.88493908_88493909insC (hg19) ; chr16:g.88427500_88427501insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88427506dup , CM000678.2:g.88427506dup	GRCh38
NC_000016.9:g.88493914dup , CM000678.1:g.88493914dup	GRCh37
NC_000016.8:g.87021415dup	NCBI36
NG_012236.2:g.5036dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.36dup MANE Select	ENSP00000456500.2:p.Thr13HisfsTer?
ENST00000437464.1:c.36dup	ENSP00000402343.1:p.Thr13HisfsTer?
ENST00000565624.1:c.36dup	ENSP00000456500.1:p.Thr13HisfsTer?
NM_001127464.2:c.36dup	NP_001120936.2:p.Thr13HisfsTer?
XM_011523386.1:c.36dup	XP_011521688.1:p.Thr13HisfsTer?
XM_011523387.1:c.36dup	XP_011521689.1:p.Thr13HisfsTer?
XM_011523388.1:c.36dup	XP_011521690.1:p.Thr13HisfsTer?
XM_017023784.1:c.36dup	XP_016879273.1:p.Thr13HisfsTer?
XM_017023785.1:c.36dup	XP_016879274.1:p.Thr13HisfsTer?
XR_002957934.1:n.250+2463dup
NM_001367624.1:c.36dup	NP_001354553.1:p.Thr13HisfsTer?
NM_001367624.2:c.36dup MANE Select	NP_001354553.1:p.Thr13HisfsTer?