Canonical Allele Identifier: CA8225215
Community Standard Title: NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88434586C>G , CM000678.2:g.88434586C>G GRCh38
NC_000016.9:g.88500994C>G , CM000678.1:g.88500994C>G GRCh37
NC_000016.8:g.87028495C>G NCBI36
NG_012236.2:g.12116C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.7116C>G MANE Select NP_001354553.1:p.Thr2372=
ENST00000565624.3:c.7116C>G MANE Select ENSP00000456500.2:p.Thr2372=
NM_001127464.2:c.7032C>G NP_001120936.2:p.Thr2344=
NM_001367624.1:c.7116C>G NP_001354553.1:p.Thr2372=
ENST00000437464.1:c.7032C>G ENSP00000402343.1:p.Thr2344=
ENST00000565624.1:c.7116C>G ENSP00000456500.1:p.Thr2372=
XM_011523386.1:c.7116C>G XP_011521688.1:p.Thr2372=
XM_011523387.1:c.7116C>G XP_011521689.1:p.Thr2372=
XM_011523388.1:c.7116C>G XP_011521690.1:p.Thr2372=
XM_017023784.1:c.7116C>G XP_016879273.1:p.Thr2372=
XM_017023785.1:c.7116C>G XP_016879274.1:p.Thr2372=