Canonical Allele Identifier: CA397125361

Gene: ZNF469

Linked Data

• dbSNP Id: rs1206417002
• gnomAD v4: 16-88437447-C-T
• MyVariant Identifiers: chr16:g.88503855C>T (hg19) ; chr16:g.88437447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437447C>T , CM000678.2:g.88437447C>T	GRCh38
NC_000016.9:g.88503855C>T , CM000678.1:g.88503855C>T	GRCh37
NC_000016.8:g.87031356C>T	NCBI36
NG_012236.2:g.14977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9977C>T MANE Select	ENSP00000456500.2:p.Thr3326Ile
ENST00000437464.1:c.9893C>T	ENSP00000402343.1:p.Thr3298Ile
ENST00000565624.1:c.9977C>T	ENSP00000456500.1:p.Thr3326Ile
NM_001127464.2:c.9893C>T	NP_001120936.2:p.Thr3298Ile
XM_011523386.1:c.9977C>T	XP_011521688.1:p.Thr3326Ile
XM_011523387.1:c.9977C>T	XP_011521689.1:p.Thr3326Ile
XM_011523388.1:c.9977C>T	XP_011521690.1:p.Thr3326Ile
XM_017023784.1:c.9977C>T	XP_016879273.1:p.Thr3326Ile
XM_017023785.1:c.9977C>T	XP_016879274.1:p.Thr3326Ile
NM_001367624.1:c.9977C>T	NP_001354553.1:p.Thr3326Ile
NM_001367624.2:c.9977C>T MANE Select	NP_001354553.1:p.Thr3326Ile