Canonical Allele Identifier: CA497358900

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 3001949
• ClinVar RCV Id: RCV003863012
• dbSNP Id: rs1177961785
• gnomAD v2: 16-88503640-C-T
• gnomAD v4: 16-88437232-C-T
• MyVariant Identifiers: chr16:g.88503640C>T (hg19) ; chr16:g.88437232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437232C>T , CM000678.2:g.88437232C>T	GRCh38
NC_000016.9:g.88503640C>T , CM000678.1:g.88503640C>T	GRCh37
NC_000016.8:g.87031141C>T	NCBI36
NG_012236.2:g.14762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9762C>T MANE Select	ENSP00000456500.2:p.Asp3254=
ENST00000437464.1:c.9678C>T	ENSP00000402343.1:p.Asp3226=
ENST00000565624.1:c.9762C>T	ENSP00000456500.1:p.Asp3254=
NM_001127464.2:c.9678C>T	NP_001120936.2:p.Asp3226=
XM_011523386.1:c.9762C>T	XP_011521688.1:p.Asp3254=
XM_011523387.1:c.9762C>T	XP_011521689.1:p.Asp3254=
XM_011523388.1:c.9762C>T	XP_011521690.1:p.Asp3254=
XM_017023784.1:c.9762C>T	XP_016879273.1:p.Asp3254=
XM_017023785.1:c.9762C>T	XP_016879274.1:p.Asp3254=
NM_001367624.1:c.9762C>T	NP_001354553.1:p.Asp3254=
NM_001367624.2:c.9762C>T MANE Select	NP_001354553.1:p.Asp3254=