Canonical Allele Identifier: CA8224884
Community Standard Title: NM_001367624.2(ZNF469):c.3752C>T (p.Ala1251Val)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88431222C>T , CM000678.2:g.88431222C>T GRCh38
NC_000016.9:g.88497630C>T , CM000678.1:g.88497630C>T GRCh37
NC_000016.8:g.87025131C>T NCBI36
NG_012236.2:g.8752C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.3752C>T MANE Select NP_001354553.1:p.Ala1251Val
ENST00000565624.3:c.3752C>T MANE Select ENSP00000456500.2:p.Ala1251Val
NM_001127464.2:c.3668C>T NP_001120936.2:p.Ala1223Val
NM_001367624.1:c.3752C>T NP_001354553.1:p.Ala1251Val
ENST00000437464.1:c.3668C>T ENSP00000402343.1:p.Ala1223Val
ENST00000565624.1:c.3752C>T ENSP00000456500.1:p.Ala1251Val
XM_011523386.1:c.3752C>T XP_011521688.1:p.Ala1251Val
XM_011523387.1:c.3752C>T XP_011521689.1:p.Ala1251Val
XM_011523388.1:c.3752C>T XP_011521690.1:p.Ala1251Val
XM_017023784.1:c.3752C>T XP_016879273.1:p.Ala1251Val
XM_017023785.1:c.3752C>T XP_016879274.1:p.Ala1251Val