Canonical Allele Identifier: CA16607117
Gene: ZNF469 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 387713
ClinVar RCV Id: RCV000443600
dbSNP Id: rs1004428835

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88427489C>T , CM000678.2:g.88427489C>T GRCh38
NC_000016.9:g.88493897C>T , CM000678.1:g.88493897C>T GRCh37
NC_000016.8:g.87021398C>T NCBI36
NG_012236.2:g.5019C>T

Transcript Alleles

HGVS Amino-acid change
NM_001127464.2:n.19C>T VV NP_001120936.2:p.Arg7Ter
XM_011523386.1:c.19C>T XP_011521688.1:p.Arg7Ter
XM_011523387.1:c.19C>T XP_011521689.1:p.Arg7Ter
XM_011523388.1:c.19C>T XP_011521690.1:p.Arg7Ter
XM_017023784.1:c.19C>T XP_016879273.1:p.Arg7Ter
XM_017023785.1:c.19C>T XP_016879274.1:p.Arg7Ter
XR_002957934.1:n.250+2475G>A
NM_001367624.1:n.19C>T VV NP_001354553.1:p.Arg7Ter
ENST00000437464.1:n.19C>T ENSP00000402343.1:p.Arg7Ter
ENST00000565624.1:n.19C>T ENSP00000456500.1:p.Arg7Ter