Canonical Allele Identifier: CA8225159

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 320955
• ClinVar RCV Id: RCV000353120 ; RCV000420171 ; RCV002061212 ; RCV002356441
• dbSNP Id: rs13334190
• ExAC: 16:88500348 G / A
• gnomAD v2: 16-88500348-G-A
• gnomAD v3: 16-88433940-G-A
• gnomAD v4: 16-88433940-G-A
• MyVariant Identifiers: chr16:g.88500348G>A (hg19) ; chr16:g.88433940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88433940G>A , CM000678.2:g.88433940G>A	GRCh38
NC_000016.9:g.88500348G>A , CM000678.1:g.88500348G>A	GRCh37
NC_000016.8:g.87027849G>A	NCBI36
NG_012236.2:g.11470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.6470G>A MANE Select	ENSP00000456500.2:p.Arg2157Lys
ENST00000437464.1:c.6386G>A	ENSP00000402343.1:p.Arg2129Lys
ENST00000565624.1:c.6470G>A	ENSP00000456500.1:p.Arg2157Lys
NM_001127464.2:c.6386G>A	NP_001120936.2:p.Arg2129Lys
XM_011523386.1:c.6470G>A	XP_011521688.1:p.Arg2157Lys
XM_011523387.1:c.6470G>A	XP_011521689.1:p.Arg2157Lys
XM_011523388.1:c.6470G>A	XP_011521690.1:p.Arg2157Lys
XM_017023784.1:c.6470G>A	XP_016879273.1:p.Arg2157Lys
XM_017023785.1:c.6470G>A	XP_016879274.1:p.Arg2157Lys
NM_001367624.1:c.6470G>A	NP_001354553.1:p.Arg2157Lys
NM_001367624.2:c.6470G>A MANE Select	NP_001354553.1:p.Arg2157Lys