Canonical Allele Identifier: CA151327
Gene: ZNF469 HGNC NCBI

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)
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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
Search 100 bp 5'
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