Canonical Allele Identifier: CA8224758
Community Standard Title: NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88429767G>A , CM000678.2:g.88429767G>A GRCh38
NC_000016.9:g.88496175G>A , CM000678.1:g.88496175G>A GRCh37
NC_000016.8:g.87023676G>A NCBI36
NG_012236.2:g.7297G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.2297G>A MANE Select NP_001354553.1:p.Arg766Gln
ENST00000565624.3:c.2297G>A MANE Select ENSP00000456500.2:p.Arg766Gln
NM_001127464.2:c.2297G>A NP_001120936.2:p.Arg766Gln
NM_001367624.1:c.2297G>A NP_001354553.1:p.Arg766Gln
ENST00000437464.1:c.2297G>A ENSP00000402343.1:p.Arg766Gln
ENST00000565624.1:c.2297G>A ENSP00000456500.1:p.Arg766Gln
XM_011523386.1:c.2297G>A XP_011521688.1:p.Arg766Gln
XM_011523387.1:c.2297G>A XP_011521689.1:p.Arg766Gln
XM_011523388.1:c.2297G>A XP_011521690.1:p.Arg766Gln
XM_017023784.1:c.2297G>A XP_016879273.1:p.Arg766Gln
XM_017023785.1:c.2297G>A XP_016879274.1:p.Arg766Gln
XR_002957934.1:n.250+197C>T