Canonical Allele Identifier: CA286385719

Gene: ZNF469

Linked Data

• dbSNP Id: rs1017341130
• gnomAD v2: 16-88503642-C-T
• gnomAD v3: 16-88437234-C-T
• gnomAD v4: 16-88437234-C-T
• MyVariant Identifiers: chr16:g.88503642C>T (hg19) ; chr16:g.88437234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437234C>T , CM000678.2:g.88437234C>T	GRCh38
NC_000016.9:g.88503642C>T , CM000678.1:g.88503642C>T	GRCh37
NC_000016.8:g.87031143C>T	NCBI36
NG_012236.2:g.14764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9764C>T MANE Select	ENSP00000456500.2:p.Pro3255Leu
ENST00000437464.1:c.9680C>T	ENSP00000402343.1:p.Pro3227Leu
ENST00000565624.1:c.9764C>T	ENSP00000456500.1:p.Pro3255Leu
NM_001127464.2:c.9680C>T	NP_001120936.2:p.Pro3227Leu
XM_011523386.1:c.9764C>T	XP_011521688.1:p.Pro3255Leu
XM_011523387.1:c.9764C>T	XP_011521689.1:p.Pro3255Leu
XM_011523388.1:c.9764C>T	XP_011521690.1:p.Pro3255Leu
XM_017023784.1:c.9764C>T	XP_016879273.1:p.Pro3255Leu
XM_017023785.1:c.9764C>T	XP_016879274.1:p.Pro3255Leu
NM_001367624.1:c.9764C>T	NP_001354553.1:p.Pro3255Leu
NM_001367624.2:c.9764C>T MANE Select	NP_001354553.1:p.Pro3255Leu