Canonical Allele Identifier: CA286387756

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 506516
• ClinVar RCV Id: RCV001704717 ; RCV002245043 ; RCV002438553 ; RCV003915759
• dbSNP Id: rs936296523
• gnomAD v2: 16-88505122-C-T
• gnomAD v3: 16-88438714-C-T
• gnomAD v4: 16-88438714-C-T
• MyVariant Identifiers: chr16:g.88505122C>T (hg19) ; chr16:g.88438714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88438714C>T , CM000678.2:g.88438714C>T	GRCh38
NC_000016.9:g.88505122C>T , CM000678.1:g.88505122C>T	GRCh37
NC_000016.8:g.87032623C>T	NCBI36
NG_012236.2:g.16244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000565624.3:c.11244C>T MANE Select	ENSP00000456500.2:p.Ser3748=
ENST00000437464.1:c.11160C>T	ENSP00000402343.1:p.Ser3720=
ENST00000565624.1:c.11244C>T	ENSP00000456500.1:p.Ser3748=
NM_001127464.2:c.11160C>T	NP_001120936.2:p.Ser3720=
XM_011523386.1:c.11244C>T	XP_011521688.1:p.Ser3748=
XM_011523387.1:c.11244C>T	XP_011521689.1:p.Ser3748=
XM_011523388.1:c.11244C>T	XP_011521690.1:p.Ser3748=
XM_017023784.1:c.11244C>T	XP_016879273.1:p.Ser3748=
XM_017023785.1:c.11244C>T	XP_016879274.1:p.Ser3748=
NM_001367624.1:c.11244C>T	NP_001354553.1:p.Ser3748=
NM_001367624.2:c.11244C>T MANE Select	NP_001354553.1:p.Ser3748=