Canonical Allele Identifier: CA286371130
Gene: ZNF469 HGNC NCBI

Linked Data

dbSNP Id: rs894917949
gnomAD v2: 16-88493869-C-T
gnomAD v3: 16-88427461-C-T
gnomAD v4: 16-88427461-C-T
MyVariant Identifiers: chr16:g.88493869C>T (hg19) chr16:g.88427461C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88427461C>T , CM000678.2:g.88427461C>T GRCh38
NC_000016.9:g.88493869C>T , CM000678.1:g.88493869C>T GRCh37
NC_000016.8:g.87021370C>T NCBI36
NG_012236.2:g.4991C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000565624.3:c.-10C>T MANE Select ENSP00000456500.2:n.-10C>T
XM_011523386.1:c.-10C>T XP_011521688.1:n.-10C>T
XM_011523387.1:c.-10C>T XP_011521689.1:n.-10C>T
XM_011523388.1:c.-10C>T XP_011521690.1:n.-10C>T
XM_017023784.1:c.-10C>T XP_016879273.1:n.-10C>T
XM_017023785.1:c.-10C>T XP_016879274.1:n.-10C>T
XR_002957934.1:n.250+2503G>A
NM_001367624.2:c.-10C>T MANE Select NP_001354553.1:n.-10C>T
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