Canonical Allele Identifier: CA413412128
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921833T>A , CM000685.2:g.64921833T>A GRCh38
NC_000023.10:g.64141713T>A , CM000685.1:g.64141713T>A GRCh37
NC_000023.9:g.64058438T>A NCBI36
NG_021200.1:g.59701A>T
NG_021200.2:g.117912A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.140A>T ENSP00000515193.1:p.His47Leu
ENST00000492653.6:c.209A>T ENSP00000515192.1:p.His70Leu
ENST00000703133.1:c.*783A>T ENSP00000515188.1:n.*783A>T
ENST00000703136.1:c.*167A>T ENSP00000515190.1:n.*167A>T
ENST00000374839.8:c.209A>T MANE Select ENSP00000363972.3:p.His70Leu
ENST00000337990.2:c.140A>T ENSP00000338650.2:p.His47Leu
ENST00000374839.7:c.209A>T ENSP00000363972.3:p.His70Leu
ENST00000447788.6:c.209A>T ENSP00000399126.2:p.His70Leu
ENST00000476032.1:n.450A>T
ENST00000488608.5:n.365A>T
ENST00000488831.5:n.197A>T
ENST00000492653.5:n.305A>T
NM_001178032.2:c.140A>T NP_001171503.1:p.His47Leu
NM_001178033.2:c.209A>T NP_001171504.1:p.His70Leu
NM_001243804.1:c.140A>T NP_001230733.1:p.His47Leu
NM_018684.3:c.209A>T NP_061154.1:p.His70Leu
NR_045044.1:n.620A>T
NM_018684.4:c.209A>T MANE Select NP_061154.1:p.His70Leu
NM_001178032.3:c.140A>T NP_001171503.1:p.His47Leu
NM_001243804.2:c.140A>T NP_001230733.1:p.His47Leu
NR_045044.2:n.537A>T
NM_001178033.3:c.209A>T NP_001171504.1:p.His70Leu