Canonical Allele Identifier: CA397094634
Community Standard Title: NM_001367624.2(ZNF469):c.4972T>C (p.Trp1658Arg)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88432442T>C , CM000678.2:g.88432442T>C GRCh38
NC_000016.9:g.88498850T>C , CM000678.1:g.88498850T>C GRCh37
NC_000016.8:g.87026351T>C NCBI36
NG_012236.2:g.9972T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.4972T>C MANE Select NP_001354553.1:p.Trp1658Arg
ENST00000565624.3:c.4972T>C MANE Select ENSP00000456500.2:p.Trp1658Arg
NM_001127464.2:c.4888T>C NP_001120936.2:p.Trp1630Arg
NM_001367624.1:c.4972T>C NP_001354553.1:p.Trp1658Arg
ENST00000437464.1:c.4888T>C ENSP00000402343.1:p.Trp1630Arg
ENST00000565624.1:c.4972T>C ENSP00000456500.1:p.Trp1658Arg
XM_011523386.1:c.4972T>C XP_011521688.1:p.Trp1658Arg
XM_011523387.1:c.4972T>C XP_011521689.1:p.Trp1658Arg
XM_011523388.1:c.4972T>C XP_011521690.1:p.Trp1658Arg
XM_017023784.1:c.4972T>C XP_016879273.1:p.Trp1658Arg
XM_017023785.1:c.4972T>C XP_016879274.1:p.Trp1658Arg