Canonical Allele Identifier: CA397102400
Community Standard Title: NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88433259A>G , CM000678.2:g.88433259A>G GRCh38
NC_000016.9:g.88499667A>G , CM000678.1:g.88499667A>G GRCh37
NC_000016.8:g.87027168A>G NCBI36
NG_012236.2:g.10789A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.5789A>G MANE Select NP_001354553.1:p.Gln1930Arg
ENST00000565624.3:c.5789A>G MANE Select ENSP00000456500.2:p.Gln1930Arg
NM_001127464.2:c.5705A>G NP_001120936.2:p.Gln1902Arg
NM_001367624.1:c.5789A>G NP_001354553.1:p.Gln1930Arg
ENST00000437464.1:c.5705A>G ENSP00000402343.1:p.Gln1902Arg
ENST00000565624.1:c.5789A>G ENSP00000456500.1:p.Gln1930Arg
XM_011523386.1:c.5789A>G XP_011521688.1:p.Gln1930Arg
XM_011523387.1:c.5789A>G XP_011521689.1:p.Gln1930Arg
XM_011523388.1:c.5789A>G XP_011521690.1:p.Gln1930Arg
XM_017023784.1:c.5789A>G XP_016879273.1:p.Gln1930Arg
XM_017023785.1:c.5789A>G XP_016879274.1:p.Gln1930Arg