Canonical Allele Identifier: CA151327

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 126944
• ClinVar RCV Id: RCV000114800
• dbSNP Id: rs281865150
• MyVariant Identifiers: chr16:g.88499559A>T (hg19) ; chr16:g.88433151A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88433151A>T , CM000678.2:g.88433151A>T	GRCh38
NC_000016.9:g.88499559A>T , CM000678.1:g.88499559A>T	GRCh37
NC_000016.8:g.87027060A>T	NCBI36
NG_012236.2:g.10681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.5681A>T MANE Select	ENSP00000456500.2:p.Gln1894Leu
ENST00000437464.1:c.5597A>T	ENSP00000402343.1:p.Gln1866Leu
ENST00000565624.1:c.5681A>T	ENSP00000456500.1:p.Gln1894Leu
NM_001127464.2:c.5597A>T	NP_001120936.2:p.Gln1866Leu
XM_011523386.1:c.5681A>T	XP_011521688.1:p.Gln1894Leu
XM_011523387.1:c.5681A>T	XP_011521689.1:p.Gln1894Leu
XM_011523388.1:c.5681A>T	XP_011521690.1:p.Gln1894Leu
XM_017023784.1:c.5681A>T	XP_016879273.1:p.Gln1894Leu
XM_017023785.1:c.5681A>T	XP_016879274.1:p.Gln1894Leu
NM_001367624.1:c.5681A>T	NP_001354553.1:p.Gln1894Leu
NM_001367624.2:c.5681A>T MANE Select	NP_001354553.1:p.Gln1894Leu